Canonical Allele Identifier: CA354007039

Gene: ATP6V1A

Linked Data

• gnomAD v4: 3-113784239-G-C
• MyVariant Identifiers: chr3:g.113503086G>C (hg19) ; chr3:g.113784239G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113784239G>C , CM000665.2:g.113784239G>C	GRCh38
NC_000003.11:g.113503086G>C , CM000665.1:g.113503086G>C	GRCh37
NC_000003.10:g.114985776G>C	NCBI36
NG_047012.1:g.42221G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496747.6:c.128G>C	ENSP00000417545.2:p.Gly43Ala
ENST00000703904.2:c.227G>C	ENSP00000515542.1:p.Gly76Ala
ENST00000703907.1:n.327G>C
ENST00000703908.1:c.227G>C	ENSP00000515545.1:p.Gly76Ala
ENST00000703909.1:c.227G>C	ENSP00000515546.1:p.Gly76Ala
ENST00000703910.1:c.227G>C	ENSP00000515547.1:p.Gly76Ala
ENST00000703911.1:c.227G>C	ENSP00000515548.1:p.Gly76Ala
ENST00000273398.8:c.227G>C MANE Select	ENSP00000273398.3:p.Gly76Ala
ENST00000273398.7:c.227G>C	ENSP00000273398.3:p.Gly76Ala
ENST00000470455.5:c.*129G>C	ENSP00000420146.1:n.*129G>C
ENST00000475322.1:c.227G>C	ENSP00000419294.1:p.Gly76Ala
ENST00000496747.5:c.128G>C	ENSP00000417545.1:p.Gly43Ala
NM_001690.3:c.227G>C	NP_001681.2:p.Gly76Ala
NM_001690.4:c.227G>C MANE Select	NP_001681.2:p.Gly76Ala