Canonical Allele Identifier: CA354006989

Gene: ATP6V1A

Linked Data

• gnomAD v4: 3-113784230-T-C
• MyVariant Identifiers: chr3:g.113503077T>C (hg19) ; chr3:g.113784230T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113784230T>C , CM000665.2:g.113784230T>C	GRCh38
NC_000003.11:g.113503077T>C , CM000665.1:g.113503077T>C	GRCh37
NC_000003.10:g.114985767T>C	NCBI36
NG_047012.1:g.42212T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496747.6:c.119T>C	ENSP00000417545.2:p.Val40Ala
ENST00000703904.2:c.218T>C	ENSP00000515542.1:p.Val73Ala
ENST00000703907.1:n.318T>C
ENST00000703908.1:c.218T>C	ENSP00000515545.1:p.Val73Ala
ENST00000703909.1:c.218T>C	ENSP00000515546.1:p.Val73Ala
ENST00000703910.1:c.218T>C	ENSP00000515547.1:p.Val73Ala
ENST00000703911.1:c.218T>C	ENSP00000515548.1:p.Val73Ala
ENST00000273398.8:c.218T>C MANE Select	ENSP00000273398.3:p.Val73Ala
ENST00000273398.7:c.218T>C	ENSP00000273398.3:p.Val73Ala
ENST00000470455.5:c.*120T>C	ENSP00000420146.1:n.*120T>C
ENST00000475322.1:c.218T>C	ENSP00000419294.1:p.Val73Ala
ENST00000496747.5:c.119T>C	ENSP00000417545.1:p.Val40Ala
NM_001690.3:c.218T>C	NP_001681.2:p.Val73Ala
NM_001690.4:c.218T>C MANE Select	NP_001681.2:p.Val73Ala