Canonical Allele Identifier: CA6862240

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123756960G>A , CM000674.2:g.123756960G>A	GRCh38
NC_000012.11:g.124241507G>A , CM000674.1:g.124241507G>A	GRCh37
NC_000012.10:g.122807460G>A	NCBI36
NG_012743.1:g.49643G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.2439G>A MANE Select	NP_036595.2:p.Ala813=
ENST00000330342.8:c.2439G>A MANE Select	ENSP00000332247.2:p.Ala813=
NM_012463.3:c.2439G>A	NP_036595.2:p.Ala813=
ENST00000330342.7:c.2439G>A	ENSP00000332247.2:p.Ala813=
ENST00000534943.5:c.279G>A	ENSP00000443726.1:p.Ala93=
ENST00000543687.1:n.634G>A
ENST00000544833.1:c.285G>A	ENSP00000441143.1:p.Ala95=
ENST00000675344.1:c.*1460G>A	ENSP00000501953.1:n.*1460G>A
XM_005253563.1:c.2319G>A	XP_005253620.1:p.Ala773=
XM_006719317.2:c.1926G>A	XP_006719380.1:p.Ala642=
XM_006719318.2:c.1617G>A	XP_006719381.1:p.Ala539=
XM_024448910.1:c.2319G>A	XP_024304678.1:p.Ala773=
XM_024448911.1:c.1926G>A	XP_024304679.1:p.Ala642=
XM_024448912.1:c.1617G>A	XP_024304680.1:p.Ala539=
XR_429088.1:n.2602G>A