Canonical Allele Identifier: CA2547795

Gene: ATP6V1A

Linked Data

• dbSNP Id: rs769912385
• ExAC: 3:113503075 T / C
• gnomAD v2: 3-113503075-T-C
• gnomAD v4: 3-113784228-T-C
• MyVariant Identifiers: chr3:g.113503075T>C (hg19) ; chr3:g.113784228T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113784228T>C , CM000665.2:g.113784228T>C	GRCh38
NC_000003.11:g.113503075T>C , CM000665.1:g.113503075T>C	GRCh37
NC_000003.10:g.114985765T>C	NCBI36
NG_047012.1:g.42210T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496747.6:c.117T>C	ENSP00000417545.2:p.Gly39=
ENST00000703904.2:c.216T>C	ENSP00000515542.1:p.Gly72=
ENST00000703907.1:n.316T>C
ENST00000703908.1:c.216T>C	ENSP00000515545.1:p.Gly72=
ENST00000703909.1:c.216T>C	ENSP00000515546.1:p.Gly72=
ENST00000703910.1:c.216T>C	ENSP00000515547.1:p.Gly72=
ENST00000703911.1:c.216T>C	ENSP00000515548.1:p.Gly72=
ENST00000273398.8:c.216T>C MANE Select	ENSP00000273398.3:p.Gly72=
ENST00000273398.7:c.216T>C	ENSP00000273398.3:p.Gly72=
ENST00000470455.5:c.*118T>C	ENSP00000420146.1:n.*118T>C
ENST00000475322.1:c.216T>C	ENSP00000419294.1:p.Gly72=
ENST00000496747.5:c.117T>C	ENSP00000417545.1:p.Gly39=
NM_001690.3:c.216T>C	NP_001681.2:p.Gly72=
NM_001690.4:c.216T>C MANE Select	NP_001681.2:p.Gly72=