Canonical Allele Identifier: CA2069005295

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744627A= , CM000674.2:g.123744627A=	GRCh38
NC_000012.11:g.124229174A= , CM000674.1:g.124229174A=	GRCh37
NC_000012.10:g.122795127A=	NCBI36
NG_012743.1:g.37310A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1357A= MANE Select	ENSP00000332247.2:p.Ile453=
ENST00000540368.6:n.1388A=
ENST00000674794.1:c.1445A=
ENST00000675260.1:n.632A=
ENST00000675344.1:c.*378A=	ENSP00000501953.1:n.*378A=
ENST00000330342.7:c.1357A=	ENSP00000332247.2:p.Ile453=
ENST00000504192.2:c.967A=	ENSP00000443441.1:p.Ile323=
ENST00000536426.1:n.374A=
ENST00000545059.5:n.3993A=
NM_012463.3:c.1357A=	NP_036595.2:p.Ile453=
XM_005253563.1:c.1357A=	XP_005253620.1:p.Ile453=
XM_006719317.2:c.844A=	XP_006719380.1:p.Ile282=
XM_006719318.2:c.535A=	XP_006719381.1:p.Ile179=
XR_429088.1:n.1520A=
XM_024448910.1:c.1357A=	XP_024304678.1:p.Ile453=
XM_024448911.1:c.844A=	XP_024304679.1:p.Ile282=
XM_024448912.1:c.535A=	XP_024304680.1:p.Ile179=
NM_012463.4:c.1357A= MANE Select	NP_036595.2:p.Ile453=