Canonical Allele Identifier: CA2778102298

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706393T>A , CM000669.2:g.138706393T>A	GRCh38
NC_000007.13:g.138391138T>A , CM000669.1:g.138391138T>A	GRCh37
NC_000007.12:g.138041678T>A	NCBI36
NG_008145.1:g.96804A>T
NG_051552.1:g.155A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.*231A>T MANE Select	ENSP00000308122.2:n.*231A>T
ENST00000478480.2:c.*319A>T	ENSP00000495261.1:n.*319A>T
ENST00000644341.1:c.*231A>T	ENSP00000495642.1:n.*231A>T
ENST00000645515.1:c.*231A>T	ENSP00000496421.1:n.*231A>T
ENST00000647427.1:c.1529A>T	ENSP00000496259.1:n.1529A>T
ENST00000310018.6:c.*231A>T	ENSP00000308122.2:n.*231A>T
ENST00000393054.5:c.*231A>T	ENSP00000376774.1:n.*231A>T
NM_020632.2:c.*231A>T	NP_065683.2:n.*231A>T
NM_130840.2:c.*231A>T	NP_570855.2:n.*231A>T
NM_130841.2:c.*231A>T	NP_570856.2:n.*231A>T
XM_005250393.1:c.*231A>T	XP_005250450.1:n.*231A>T
XM_005250394.2:c.*231A>T	XP_005250451.1:n.*231A>T
XM_005250394.3:c.*231A>T	XP_005250451.1:n.*231A>T
NM_020632.3:c.*231A>T MANE Select	NP_065683.2:n.*231A>T
NM_130840.3:c.*231A>T	NP_570855.2:n.*231A>T
NM_130841.3:c.*231A>T	NP_570856.2:n.*231A>T