Canonical Allele Identifier: CA2068993914

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123748779A= , CM000674.2:g.123748779A=	GRCh38
NC_000012.11:g.124233326A= , CM000674.1:g.124233326A=	GRCh37
NC_000012.10:g.122799279A=	NCBI36
NG_012743.1:g.41462A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1929A= MANE Select	ENSP00000332247.2:p.Thr643=
ENST00000540368.6:n.1960A=
ENST00000674794.1:c.2017A=
ENST00000675260.1:n.1204A=
ENST00000675344.1:c.*950A=	ENSP00000501953.1:n.*950A=
ENST00000330342.7:c.1929A=	ENSP00000332247.2:p.Thr643=
NM_012463.3:c.1929A=	NP_036595.2:p.Thr643=
XM_005253563.1:c.1929A=	XP_005253620.1:p.Thr643=
XM_006719317.2:c.1416A=	XP_006719380.1:p.Thr472=
XM_006719318.2:c.1107A=	XP_006719381.1:p.Thr369=
XR_429088.1:n.2092A=
XM_024448910.1:c.1929A=	XP_024304678.1:p.Thr643=
XM_024448911.1:c.1416A=	XP_024304679.1:p.Thr472=
XM_024448912.1:c.1107A=	XP_024304680.1:p.Thr369=
NM_012463.4:c.1929A= MANE Select	NP_036595.2:p.Thr643=