Canonical Allele Identifier: CA2579035545

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706561C>G , CM000669.2:g.138706561C>G	GRCh38
NC_000007.13:g.138391306C>G , CM000669.1:g.138391306C>G	GRCh37
NC_000007.12:g.138041846C>G	NCBI36
NG_008145.1:g.96636G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.*63G>C MANE Select	ENSP00000308122.2:n.*63G>C
ENST00000478480.2:c.*151G>C	ENSP00000495261.1:n.*151G>C
ENST00000644341.1:c.*63G>C	ENSP00000495642.1:n.*63G>C
ENST00000645515.1:c.*63G>C	ENSP00000496421.1:n.*63G>C
ENST00000647427.1:c.1361G>C	ENSP00000496259.1:n.1361G>C
ENST00000310018.6:c.*63G>C	ENSP00000308122.2:n.*63G>C
ENST00000353492.4:c.*63G>C	ENSP00000253856.6:n.*63G>C
ENST00000393054.5:c.*63G>C	ENSP00000376774.1:n.*63G>C
NM_020632.2:c.*63G>C	NP_065683.2:n.*63G>C
NM_130840.2:c.*63G>C	NP_570855.2:n.*63G>C
NM_130841.2:c.*63G>C	NP_570856.2:n.*63G>C
XM_005250393.1:c.*63G>C	XP_005250450.1:n.*63G>C
XM_005250394.2:c.*63G>C	XP_005250451.1:n.*63G>C
XM_005250394.3:c.*63G>C	XP_005250451.1:n.*63G>C
NM_020632.3:c.*63G>C MANE Select	NP_065683.2:n.*63G>C
NM_130840.3:c.*63G>C	NP_570855.2:n.*63G>C
NM_130841.3:c.*63G>C	NP_570856.2:n.*63G>C