Canonical Allele Identifier: CA245197515

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123737247G>A , CM000674.2:g.123737247G>A	GRCh38
NC_000012.11:g.124221794G>A , CM000674.1:g.124221794G>A	GRCh37
NC_000012.10:g.122787747G>A	NCBI36
NG_012743.1:g.29930G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.1014G>A MANE Select	NP_036595.2:p.Leu338=
ENST00000330342.8:c.1014G>A MANE Select	ENSP00000332247.2:p.Leu338=
NM_012463.3:c.1014G>A	NP_036595.2:p.Leu338=
ENST00000330342.7:c.1014G>A	ENSP00000332247.2:p.Leu338=
ENST00000504192.2:c.624G>A	ENSP00000443441.1:p.Leu208=
ENST00000540368.5:n.1224G>A
ENST00000540368.6:n.1045G>A
ENST00000545059.5:n.3650G>A
ENST00000613625.4:c.1014G>A	ENSP00000482236.1:p.Leu338=
ENST00000613625.5:c.1014G>A	ENSP00000482236.1:p.Leu338=
ENST00000674794.1:c.1102G>A
ENST00000675344.1:c.1014G>A	ENSP00000501953.1:p.Leu338=
XM_005253563.1:c.1014G>A	XP_005253620.1:p.Leu338=
XM_006719317.2:c.501G>A	XP_006719380.1:p.Leu167=
XM_006719318.2:c.192G>A	XP_006719381.1:p.Leu64=
XM_024448910.1:c.1014G>A	XP_024304678.1:p.Leu338=
XM_024448911.1:c.501G>A	XP_024304679.1:p.Leu167=
XM_024448912.1:c.192G>A	XP_024304680.1:p.Leu64=
XR_429088.1:n.1177G>A