Canonical Allele Identifier: CA2069005343

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744648T= , CM000674.2:g.123744648T=	GRCh38
NC_000012.11:g.124229195T= , CM000674.1:g.124229195T=	GRCh37
NC_000012.10:g.122795148T=	NCBI36
NG_012743.1:g.37331T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1378T= MANE Select	ENSP00000332247.2:p.Phe460=
ENST00000540368.6:n.1409T=
ENST00000674794.1:c.1466T=
ENST00000675260.1:n.653T=
ENST00000675344.1:c.*399T=	ENSP00000501953.1:n.*399T=
ENST00000330342.7:c.1378T=	ENSP00000332247.2:p.Phe460=
ENST00000536426.1:n.395T=
ENST00000545059.5:n.4014T=
NM_012463.3:c.1378T=	NP_036595.2:p.Phe460=
XM_005253563.1:c.1378T=	XP_005253620.1:p.Phe460=
XM_006719317.2:c.865T=	XP_006719380.1:p.Phe289=
XM_006719318.2:c.556T=	XP_006719381.1:p.Phe186=
XR_429088.1:n.1541T=
XM_024448910.1:c.1378T=	XP_024304678.1:p.Phe460=
XM_024448911.1:c.865T=	XP_024304679.1:p.Phe289=
XM_024448912.1:c.556T=	XP_024304680.1:p.Phe186=
NM_012463.4:c.1378T= MANE Select	NP_036595.2:p.Phe460=