Canonical Allele Identifier: CA6861776

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123737187C>T , CM000674.2:g.123737187C>T	GRCh38
NC_000012.11:g.124221734C>T , CM000674.1:g.124221734C>T	GRCh37
NC_000012.10:g.122787687C>T	NCBI36
NG_012743.1:g.29870C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.954C>T MANE Select	NP_036595.2:p.Asp318=
ENST00000330342.8:c.954C>T MANE Select	ENSP00000332247.2:p.Asp318=
NM_012463.3:c.954C>T	NP_036595.2:p.Asp318=
ENST00000330342.7:c.954C>T	ENSP00000332247.2:p.Asp318=
ENST00000504192.2:c.564C>T	ENSP00000443441.1:p.Asp188=
ENST00000540368.5:n.1164C>T
ENST00000540368.6:n.985C>T
ENST00000545059.5:n.3590C>T
ENST00000613625.4:c.954C>T	ENSP00000482236.1:p.Asp318=
ENST00000613625.5:c.954C>T	ENSP00000482236.1:p.Asp318=
ENST00000674794.1:c.1042C>T
ENST00000675344.1:c.954C>T	ENSP00000501953.1:p.Asp318=
XM_005253563.1:c.954C>T	XP_005253620.1:p.Asp318=
XM_006719317.2:c.441C>T	XP_006719380.1:p.Asp147=
XM_006719318.2:c.132C>T	XP_006719381.1:p.Asp44=
XM_024448910.1:c.954C>T	XP_024304678.1:p.Asp318=
XM_024448911.1:c.441C>T	XP_024304679.1:p.Asp147=
XM_024448912.1:c.132C>T	XP_024304680.1:p.Asp44=
XR_429088.1:n.1117C>T