Canonical Allele Identifier: CA387151779

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs762260351
• gnomAD v2: 12-124209274-T-A
• gnomAD v4: 12-123724727-T-A
• MyVariant Identifiers: chr12:g.124209274T>A (hg19) ; chr12:g.123724727T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123724727T>A , CM000674.2:g.123724727T>A	GRCh38
NC_000012.11:g.124209274T>A , CM000674.1:g.124209274T>A	GRCh37
NC_000012.10:g.122775227T>A	NCBI36
NG_012743.1:g.17410T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.368T>A MANE Select	ENSP00000332247.2:p.Leu123Gln
ENST00000540368.6:n.399T>A
ENST00000613625.5:c.368T>A	ENSP00000482236.1:p.Leu123Gln
ENST00000675344.1:c.368T>A	ENSP00000501953.1:p.Leu123Gln
ENST00000330342.7:c.368T>A	ENSP00000332247.2:p.Leu123Gln
ENST00000504192.2:c.-23T>A	ENSP00000443441.1:n.-23T>A
ENST00000540368.5:n.578T>A
ENST00000613625.4:c.368T>A	ENSP00000482236.1:p.Leu123Gln
NM_012463.3:c.368T>A	NP_036595.2:p.Leu123Gln
XM_005253563.1:c.368T>A	XP_005253620.1:p.Leu123Gln
XM_006719317.2:c.-57T>A	XP_006719380.1:n.-57T>A
XR_429088.1:n.531T>A
XM_024448910.1:c.368T>A	XP_024304678.1:p.Leu123Gln
XM_024448911.1:c.-57T>A	XP_024304679.1:n.-57T>A
NM_012463.4:c.368T>A MANE Select	NP_036595.2:p.Leu123Gln