Canonical Allele Identifier: CA2069005303

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744632C= , CM000674.2:g.123744632C=	GRCh38
NC_000012.11:g.124229179C= , CM000674.1:g.124229179C=	GRCh37
NC_000012.10:g.122795132C=	NCBI36
NG_012743.1:g.37315C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1362C= MANE Select	ENSP00000332247.2:p.Leu454=
ENST00000540368.6:n.1393C=
ENST00000674794.1:c.1450C=
ENST00000675260.1:n.637C=
ENST00000675344.1:c.*383C=	ENSP00000501953.1:n.*383C=
ENST00000330342.7:c.1362C=	ENSP00000332247.2:p.Leu454=
ENST00000504192.2:c.972C=	ENSP00000443441.1:p.Leu324=
ENST00000536426.1:n.379C=
ENST00000545059.5:n.3998C=
NM_012463.3:c.1362C=	NP_036595.2:p.Leu454=
XM_005253563.1:c.1362C=	XP_005253620.1:p.Leu454=
XM_006719317.2:c.849C=	XP_006719380.1:p.Leu283=
XM_006719318.2:c.540C=	XP_006719381.1:p.Leu180=
XR_429088.1:n.1525C=
XM_024448910.1:c.1362C=	XP_024304678.1:p.Leu454=
XM_024448911.1:c.849C=	XP_024304679.1:p.Leu283=
XM_024448912.1:c.540C=	XP_024304680.1:p.Leu180=
NM_012463.4:c.1362C= MANE Select	NP_036595.2:p.Leu454=