Canonical Allele Identifier: CA369373580
Gene: ATP6V0A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138706625T>C , CM000669.2:g.138706625T>C GRCh38
NC_000007.13:g.138391370T>C , CM000669.1:g.138391370T>C GRCh37
NC_000007.12:g.138041910T>C NCBI36
NG_008145.1:g.96572A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000310018.7:c.2522A>G MANE Select ENSP00000308122.2:p.Ter841Trp
ENST00000478480.2:c.*87A>G ENSP00000495261.1:p.=
ENST00000644341.1:c.1748A>G ENSP00000495642.1:p.Ter583Trp
ENST00000645515.1:c.2522A>G ENSP00000496421.1:p.Ter841Trp
ENST00000647427.1:n.1297A>G ENSP00000496259.1:p.=
ENST00000310018.6:c.2522A>G ENSP00000308122.2:p.Ter841Trp
ENST00000353492.4:c.2522A>G ENSP00000253856.6:p.Ter841Trp
ENST00000393054.5:c.2522A>G ENSP00000376774.1:p.Ter841Trp
NM_020632.2:c.2522A>G NP_065683.2:p.Ter841Trp
NM_130840.2:c.2522A>G NP_570855.2:p.Ter841Trp
NM_130841.2:c.2522A>G NP_570856.2:p.Ter841Trp
XM_005250393.1:c.2522A>G XP_005250450.1:p.Ter841Trp
XM_005250394.2:c.2522A>G XP_005250451.1:p.Ter841Trp
XM_005250394.3:c.2522A>G XP_005250451.1:p.Ter841Trp
NM_020632.3:c.2522A>G MANE Select NP_065683.2:p.Ter841Trp
NM_130840.3:c.2522A>G NP_570855.2:p.Ter841Trp
NM_130841.3:c.2522A>G NP_570856.2:p.Ter841Trp