Canonical Allele Identifier: CA2069003851

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743869T= , CM000674.2:g.123743869T=	GRCh38
NC_000012.11:g.124228416T= , CM000674.1:g.124228416T=	GRCh37
NC_000012.10:g.122794369T=	NCBI36
NG_012743.1:g.36552T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1123T= MANE Select	ENSP00000332247.2:p.Phe375=
ENST00000540368.6:n.1154T=
ENST00000674794.1:c.1211T=
ENST00000675260.1:n.398T=
ENST00000675344.1:c.*144T=	ENSP00000501953.1:n.*144T=
ENST00000330342.7:c.1123T=	ENSP00000332247.2:p.Phe375=
ENST00000504192.2:c.733T=	ENSP00000443441.1:p.Phe245=
ENST00000536426.1:n.140T=
ENST00000545059.5:n.3759T=
NM_012463.3:c.1123T=	NP_036595.2:p.Phe375=
XM_005253563.1:c.1123T=	XP_005253620.1:p.Phe375=
XM_006719317.2:c.610T=	XP_006719380.1:p.Phe204=
XM_006719318.2:c.301T=	XP_006719381.1:p.Phe101=
XR_429088.1:n.1286T=
XM_024448910.1:c.1123T=	XP_024304678.1:p.Phe375=
XM_024448911.1:c.610T=	XP_024304679.1:p.Phe204=
XM_024448912.1:c.301T=	XP_024304680.1:p.Phe101=
NM_012463.4:c.1123T= MANE Select	NP_036595.2:p.Phe375=