Canonical Allele Identifier: CA6861782

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123737209G>T , CM000674.2:g.123737209G>T	GRCh38
NC_000012.11:g.124221756G>T , CM000674.1:g.124221756G>T	GRCh37
NC_000012.10:g.122787709G>T	NCBI36
NG_012743.1:g.29892G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.976G>T MANE Select	NP_036595.2:p.Ala326Ser
ENST00000330342.8:c.976G>T MANE Select	ENSP00000332247.2:p.Ala326Ser
NM_012463.3:c.976G>T	NP_036595.2:p.Ala326Ser
ENST00000330342.7:c.976G>T	ENSP00000332247.2:p.Ala326Ser
ENST00000504192.2:c.586G>T	ENSP00000443441.1:p.Ala196Ser
ENST00000540368.5:n.1186G>T
ENST00000540368.6:n.1007G>T
ENST00000545059.5:n.3612G>T
ENST00000613625.4:c.976G>T	ENSP00000482236.1:p.Ala326Ser
ENST00000613625.5:c.976G>T	ENSP00000482236.1:p.Ala326Ser
ENST00000674794.1:c.1064G>T
ENST00000675344.1:c.976G>T	ENSP00000501953.1:p.Ala326Ser
XM_005253563.1:c.976G>T	XP_005253620.1:p.Ala326Ser
XM_006719317.2:c.463G>T	XP_006719380.1:p.Ala155Ser
XM_006719318.2:c.154G>T	XP_006719381.1:p.Ala52Ser
XM_024448910.1:c.976G>T	XP_024304678.1:p.Ala326Ser
XM_024448911.1:c.463G>T	XP_024304679.1:p.Ala155Ser
XM_024448912.1:c.154G>T	XP_024304680.1:p.Ala52Ser
XR_429088.1:n.1139G>T