Canonical Allele Identifier: CA2069005396

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744673A= , CM000674.2:g.123744673A=	GRCh38
NC_000012.11:g.124229220A= , CM000674.1:g.124229220A=	GRCh37
NC_000012.10:g.122795173A=	NCBI36
NG_012743.1:g.37356A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1403A= MANE Select	ENSP00000332247.2:p.Tyr468=
ENST00000540368.6:n.1434A=
ENST00000674794.1:c.1491A=
ENST00000675260.1:n.678A=
ENST00000675344.1:c.*424A=	ENSP00000501953.1:n.*424A=
ENST00000330342.7:c.1403A=	ENSP00000332247.2:p.Tyr468=
ENST00000536426.1:n.420A=
ENST00000545059.5:n.4039A=
NM_012463.3:c.1403A=	NP_036595.2:p.Tyr468=
XM_005253563.1:c.1403A=	XP_005253620.1:p.Tyr468=
XM_006719317.2:c.890A=	XP_006719380.1:p.Tyr297=
XM_006719318.2:c.581A=	XP_006719381.1:p.Tyr194=
XR_429088.1:n.1566A=
XM_024448910.1:c.1403A=	XP_024304678.1:p.Tyr468=
XM_024448911.1:c.890A=	XP_024304679.1:p.Tyr297=
XM_024448912.1:c.581A=	XP_024304680.1:p.Tyr194=
NM_012463.4:c.1403A= MANE Select	NP_036595.2:p.Tyr468=