Canonical Allele Identifier: CA482268084

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123712598C>T , CM000674.2:g.123712598C>T	GRCh38
NC_000012.11:g.124197145C>T , CM000674.1:g.124197145C>T	GRCh37
NC_000012.10:g.122763098C>T	NCBI36
NG_012743.1:g.5281C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.33C>T MANE Select	ENSP00000332247.2:p.Cys11=
ENST00000540368.6:n.64C>T
ENST00000613625.5:c.33C>T	ENSP00000482236.1:p.Cys11=
ENST00000675344.1:c.33C>T	ENSP00000501953.1:p.Cys11=
ENST00000676034.1:n.16C>T
ENST00000330342.7:c.33C>T	ENSP00000332247.2:p.Cys11=
ENST00000540368.5:n.243C>T
ENST00000613625.4:c.33C>T	ENSP00000482236.1:p.Cys11=
NM_012463.3:c.33C>T	NP_036595.2:p.Cys11=
XM_005253563.1:c.33C>T	XP_005253620.1:p.Cys11=
XR_429088.1:n.196C>T
XM_024448910.1:c.33C>T	XP_024304678.1:p.Cys11=
NM_012463.4:c.33C>T MANE Select	NP_036595.2:p.Cys11=