Canonical Allele Identifier: CA2547796

Gene: ATP6V1A

Linked Data

• ClinVar Variation Id: 2988770
• ClinVar RCV Id: RCV003846937
• dbSNP Id: rs775563385
• ExAC: 3:113503082 G / T
• gnomAD v2: 3-113503082-G-T
• gnomAD v3: 3-113784235-G-T
• gnomAD v4: 3-113784235-G-T
• MyVariant Identifiers: chr3:g.113503082G>T (hg19) ; chr3:g.113784235G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113784235G>T , CM000665.2:g.113784235G>T	GRCh38
NC_000003.11:g.113503082G>T , CM000665.1:g.113503082G>T	GRCh37
NC_000003.10:g.114985772G>T	NCBI36
NG_047012.1:g.42217G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496747.6:c.124G>T	ENSP00000417545.2:p.Val42Phe
ENST00000703904.2:c.223G>T	ENSP00000515542.1:p.Val75Phe
ENST00000703907.1:n.323G>T
ENST00000703908.1:c.223G>T	ENSP00000515545.1:p.Val75Phe
ENST00000703909.1:c.223G>T	ENSP00000515546.1:p.Val75Phe
ENST00000703910.1:c.223G>T	ENSP00000515547.1:p.Val75Phe
ENST00000703911.1:c.223G>T	ENSP00000515548.1:p.Val75Phe
ENST00000273398.8:c.223G>T MANE Select	ENSP00000273398.3:p.Val75Phe
ENST00000273398.7:c.223G>T	ENSP00000273398.3:p.Val75Phe
ENST00000470455.5:c.*125G>T	ENSP00000420146.1:n.*125G>T
ENST00000475322.1:c.223G>T	ENSP00000419294.1:p.Val75Phe
ENST00000496747.5:c.124G>T	ENSP00000417545.1:p.Val42Phe
NM_001690.3:c.223G>T	NP_001681.2:p.Val75Phe
NM_001690.4:c.223G>T MANE Select	NP_001681.2:p.Val75Phe