The CA5A gene homepage

General information
Gene symbol CA5A
Gene name carbonic anhydrase VA, mitochondrial
Chromosome 16
Chromosomal band q24.2
Imprinted Unknown
Genomic reference NC_000016.9
Transcript reference NM_001739.1
Exon/intron information NM_001739.1 exon/intron table
Associated with diseases CA5AD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Clara van Karnebeek
Total number of public variants reported 14
Unique public DNA variants reported 14
Individuals with public variants 4
Hidden variants 22
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 23, 2013
Date last updated November 01, 2022
Version CA5A:221101

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001739.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/CA5A
HGNC 1377
Entrez Gene 763
PubMed articles CA5A
OMIM - Gene 114761
OMIM - Diseases CA5AD (deficiency, carbonic anhydrase VA, hyperammonemia (CA5AD))
HGMD CA5A
GeneCards CA5A
GeneTests CA5A
Orphanet CA5A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001804 16 carbonic anhydrase VA, mitochondrial NM_001739.1 NP_001730.1 14


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