Canonical Allele Identifier: CA369370185
Gene: ATP6V0A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138739544T>G , CM000669.2:g.138739544T>G GRCh38
NC_000007.13:g.138424289T>G , CM000669.1:g.138424289T>G GRCh37
NC_000007.12:g.138074829T>G NCBI36
NG_008145.1:g.63653A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000310018.7:c.1568A>C MANE Select ENSP00000308122.2:p.Asp523Ala
ENST00000478480.2:c.794A>C ENSP00000495261.1:p.Asp265Ala
ENST00000644341.1:c.794A>C ENSP00000495642.1:p.Asp265Ala
ENST00000645515.1:c.1568A>C ENSP00000496421.1:p.Asp523Ala
ENST00000647427.1:n.461A>C ENSP00000496259.1:p.Asp154Ala
ENST00000310018.6:c.1568A>C ENSP00000308122.2:p.Asp523Ala
ENST00000353492.4:c.1568A>C ENSP00000253856.6:p.Asp523Ala
ENST00000393054.5:c.1568A>C ENSP00000376774.1:p.Asp523Ala
ENST00000471085.1:n.252-5290A>C
NM_020632.2:c.1568A>C NP_065683.2:p.Asp523Ala
NM_130840.2:c.1568A>C NP_570855.2:p.Asp523Ala
NM_130841.2:c.1568A>C NP_570856.2:p.Asp523Ala
XM_005250393.1:c.1568A>C XP_005250450.1:p.Asp523Ala
XM_005250394.2:c.1568A>C XP_005250451.1:p.Asp523Ala
XM_005250394.3:c.1568A>C XP_005250451.1:p.Asp523Ala
NM_020632.3:c.1568A>C MANE Select NP_065683.2:p.Asp523Ala
NM_130840.3:c.1568A>C NP_570855.2:p.Asp523Ala
NM_130841.3:c.1568A>C NP_570856.2:p.Asp523Ala