Canonical Allele Identifier: CA2068977333

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123724723T= , CM000674.2:g.123724723T=	GRCh38
NC_000012.11:g.124209270T= , CM000674.1:g.124209270T=	GRCh37
NC_000012.10:g.122775223T=	NCBI36
NG_012743.1:g.17406T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.364T= MANE Select	ENSP00000332247.2:p.Leu122=
ENST00000540368.6:n.395T=
ENST00000613625.5:c.364T=	ENSP00000482236.1:p.Leu122=
ENST00000675344.1:c.364T=	ENSP00000501953.1:p.Leu122=
ENST00000330342.7:c.364T=	ENSP00000332247.2:p.Leu122=
ENST00000504192.2:c.-27T=	ENSP00000443441.1:n.-27T=
ENST00000540368.5:n.574T=
ENST00000613625.4:c.364T=	ENSP00000482236.1:p.Leu122=
NM_012463.3:c.364T=	NP_036595.2:p.Leu122=
XM_005253563.1:c.364T=	XP_005253620.1:p.Leu122=
XM_006719317.2:c.-61T=	XP_006719380.1:n.-61T=
XR_429088.1:n.527T=
XM_024448910.1:c.364T=	XP_024304678.1:p.Leu122=
XM_024448911.1:c.-61T=	XP_024304679.1:n.-61T=
NM_012463.4:c.364T= MANE Select	NP_036595.2:p.Leu122=