Canonical Allele Identifier: CA387154248

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123737110G>T , CM000674.2:g.123737110G>T	GRCh38
NC_000012.11:g.124221657G>T , CM000674.1:g.124221657G>T	GRCh37
NC_000012.10:g.122787610G>T	NCBI36
NG_012743.1:g.29793G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.877G>T MANE Select	NP_036595.2:p.Glu293Ter
ENST00000330342.8:c.877G>T MANE Select	ENSP00000332247.2:p.Glu293Ter
NM_012463.3:c.877G>T	NP_036595.2:p.Glu293Ter
ENST00000330342.7:c.877G>T	ENSP00000332247.2:p.Glu293Ter
ENST00000504192.2:c.487G>T	ENSP00000443441.1:p.Glu163Ter
ENST00000540368.5:n.1087G>T
ENST00000540368.6:n.908G>T
ENST00000545059.5:n.3513G>T
ENST00000613625.4:c.877G>T	ENSP00000482236.1:p.Glu293Ter
ENST00000613625.5:c.877G>T	ENSP00000482236.1:p.Glu293Ter
ENST00000674794.1:c.965G>T
ENST00000675344.1:c.877G>T	ENSP00000501953.1:p.Glu293Ter
XM_005253563.1:c.877G>T	XP_005253620.1:p.Glu293Ter
XM_006719317.2:c.364G>T	XP_006719380.1:p.Glu122Ter
XM_006719318.2:c.55G>T	XP_006719381.1:p.Glu19Ter
XM_024448910.1:c.877G>T	XP_024304678.1:p.Glu293Ter
XM_024448911.1:c.364G>T	XP_024304679.1:p.Glu122Ter
XM_024448912.1:c.55G>T	XP_024304680.1:p.Glu19Ter
XR_429088.1:n.1040G>T