Canonical Allele Identifier: CA2069003794

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743858G= , CM000674.2:g.123743858G=	GRCh38
NC_000012.11:g.124228405G= , CM000674.1:g.124228405G=	GRCh37
NC_000012.10:g.122794358G=	NCBI36
NG_012743.1:g.36541G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1112G= MANE Select	ENSP00000332247.2:p.Arg371=
ENST00000540368.6:n.1143G=
ENST00000674794.1:c.1200G=
ENST00000675260.1:n.387G=
ENST00000675344.1:c.*133G=	ENSP00000501953.1:n.*133G=
ENST00000330342.7:c.1112G=	ENSP00000332247.2:p.Arg371=
ENST00000504192.2:c.722G=	ENSP00000443441.1:p.Arg241=
ENST00000536426.1:n.129G=
ENST00000545059.5:n.3748G=
NM_012463.3:c.1112G=	NP_036595.2:p.Arg371=
XM_005253563.1:c.1112G=	XP_005253620.1:p.Arg371=
XM_006719317.2:c.599G=	XP_006719380.1:p.Arg200=
XM_006719318.2:c.290G=	XP_006719381.1:p.Arg97=
XR_429088.1:n.1275G=
XM_024448910.1:c.1112G=	XP_024304678.1:p.Arg371=
XM_024448911.1:c.599G=	XP_024304679.1:p.Arg200=
XM_024448912.1:c.290G=	XP_024304680.1:p.Arg97=
NM_012463.4:c.1112G= MANE Select	NP_036595.2:p.Arg371=