Canonical Allele Identifier: CA1880009381
Gene: AK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127868458G= , CM000671.2:g.127868458G= GRCh38
NC_000009.11:g.130630737G= , CM000671.1:g.130630737G= GRCh37
NC_000009.10:g.129670558G= NCBI36
NG_011792.1:g.14286C=
NG_011792.2:g.14286C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000476274.7:n.879C=
ENST00000643029.1:c.*2054C= ENSP00000496586.1:n.*2054C=
ENST00000643338.1:c.*1943C= ENSP00000495890.1:n.*1943C=
ENST00000644144.2:c.379C= MANE Select ENSP00000494600.1:p.Gln127=
ENST00000645007.1:c.*2303C= ENSP00000494773.1:n.*2303C=
ENST00000646171.1:c.*412C= ENSP00000495484.1:n.*412C=
ENST00000223836.10:c.427C= ENSP00000223836.10:p.Gln143=
ENST00000373156.5:c.379C= ENSP00000362249.1:p.Gln127=
ENST00000373176.5:c.379C= ENSP00000362271.1:p.Gln127=
ENST00000413016.5:c.201C=
ENST00000550143.5:c.159C= ENSP00000449130.1:n.159C=
NM_000476.2:c.379C= NP_000467.1:p.Gln127=
XM_005251786.2:c.427C= XP_005251843.1:p.Gln143=
XM_011518348.1:c.379C= XP_011516650.1:p.Gln127=
XM_011518349.1:c.199C= XP_011516651.1:p.Gln67=
NM_001318121.1:c.379C= NP_001305050.1:p.Gln127=
NM_001318122.1:c.427C= NP_001305051.1:p.Gln143=
XM_017014428.1:c.379C= XP_016869917.1:p.Gln127=
XM_024447439.1:c.358C= XP_024303207.1:p.Gln120=
XM_024447440.1:c.199C= XP_024303208.1:p.Gln67=
NM_001318122.2:c.427C= NP_001305051.1:p.Gln143=
NM_000476.3:c.379C= MANE Select NP_000467.1:p.Gln127=
NR_174625.1:n.3698C=
NR_174626.1:n.3541C=
NR_174627.1:n.3578C=
NR_174628.1:n.2956C=
NR_174629.1:n.2901C=
NR_174630.1:n.2937C=
NR_174631.1:n.2882C=
NR_174632.1:n.2971C=