Canonical Allele Identifier: CA2069005395

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744671C= , CM000674.2:g.123744671C=	GRCh38
NC_000012.11:g.124229218C= , CM000674.1:g.124229218C=	GRCh37
NC_000012.10:g.122795171C=	NCBI36
NG_012743.1:g.37354C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1401C= MANE Select	ENSP00000332247.2:p.Ile467=
ENST00000540368.6:n.1432C=
ENST00000674794.1:c.1489C=
ENST00000675260.1:n.676C=
ENST00000675344.1:c.*422C=	ENSP00000501953.1:n.*422C=
ENST00000330342.7:c.1401C=	ENSP00000332247.2:p.Ile467=
ENST00000536426.1:n.418C=
ENST00000545059.5:n.4037C=
NM_012463.3:c.1401C=	NP_036595.2:p.Ile467=
XM_005253563.1:c.1401C=	XP_005253620.1:p.Ile467=
XM_006719317.2:c.888C=	XP_006719380.1:p.Ile296=
XM_006719318.2:c.579C=	XP_006719381.1:p.Ile193=
XR_429088.1:n.1564C=
XM_024448910.1:c.1401C=	XP_024304678.1:p.Ile467=
XM_024448911.1:c.888C=	XP_024304679.1:p.Ile296=
XM_024448912.1:c.579C=	XP_024304680.1:p.Ile193=
NM_012463.4:c.1401C= MANE Select	NP_036595.2:p.Ile467=