Canonical Allele Identifier: CA1746768398
Community Standard Title: NM_020632.3(ATP6V0A4):c.2257C= (p.Gln753=)
Gene: ATP6V0A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138715764G= , CM000669.2:g.138715764G= GRCh38
NC_000007.13:g.138400509G= , CM000669.1:g.138400509G= GRCh37
NC_000007.12:g.138051049G= NCBI36
NG_008145.1:g.87433C=

Transcript Alleles

HGVS Amino-acid Change
NM_020632.3:c.2257C= MANE Select NP_065683.2:p.Gln753=
ENST00000310018.7:c.2257C= MANE Select ENSP00000308122.2:p.Gln753=
NM_020632.2:c.2257C= NP_065683.2:p.Gln753=
NM_130840.2:c.2257C= NP_570855.2:p.Gln753=
NM_130840.3:c.2257C= NP_570855.2:p.Gln753=
NM_130841.2:c.2257C= NP_570856.2:p.Gln753=
NM_130841.3:c.2257C= NP_570856.2:p.Gln753=
ENST00000310018.6:c.2257C= ENSP00000308122.2:p.Gln753=
ENST00000353492.4:c.2257C= ENSP00000253856.6:p.Gln753=
ENST00000393054.5:c.2257C= ENSP00000376774.1:p.Gln753=
ENST00000478480.2:c.1365+6133C= ENSP00000495261.1:n.1365+6133C=
ENST00000644341.1:c.1483C= ENSP00000495642.1:p.Gln495=
ENST00000645515.1:c.2257C= ENSP00000496421.1:p.Gln753=
ENST00000647427.1:c.1033-5969C= ENSP00000496259.1:n.1033-5969C=
XM_005250393.1:c.2257C= XP_005250450.1:p.Gln753=
XM_005250394.2:c.2257C= XP_005250451.1:p.Gln753=
XM_005250394.3:c.2257C= XP_005250451.1:p.Gln753=