Canonical Allele Identifier: CA1880009391
Gene: AK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127868482C= , CM000671.2:g.127868482C= GRCh38
NC_000009.11:g.130630761C= , CM000671.1:g.130630761C= GRCh37
NC_000009.10:g.129670582C= NCBI36
NG_011792.1:g.14262G=
NG_011792.2:g.14262G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000476274.7:n.855G=
ENST00000643029.1:c.*2030G= ENSP00000496586.1:n.*2030G=
ENST00000643338.1:c.*1919G= ENSP00000495890.1:n.*1919G=
ENST00000644144.2:c.355G= MANE Select ENSP00000494600.1:p.Asp119=
ENST00000645007.1:c.*2279G= ENSP00000494773.1:n.*2279G=
ENST00000646171.1:c.*388G= ENSP00000495484.1:n.*388G=
ENST00000223836.10:c.403G= ENSP00000223836.10:p.Asp135=
ENST00000373156.5:c.355G= ENSP00000362249.1:p.Asp119=
ENST00000373176.5:c.355G= ENSP00000362271.1:p.Asp119=
ENST00000413016.5:c.177G=
ENST00000550143.5:c.142-7G= ENSP00000449130.1:n.142-7G=
ENST00000550992.1:c.*375G= ENSP00000448741.1:n.*375G=
NM_000476.2:c.355G= NP_000467.1:p.Asp119=
XM_005251786.2:c.403G= XP_005251843.1:p.Asp135=
XM_011518348.1:c.355G= XP_011516650.1:p.Asp119=
XM_011518349.1:c.175G= XP_011516651.1:p.Asp59=
NM_001318121.1:c.355G= NP_001305050.1:p.Asp119=
NM_001318122.1:c.403G= NP_001305051.1:p.Asp135=
XM_017014428.1:c.355G= XP_016869917.1:p.Asp119=
XM_024447439.1:c.334G= XP_024303207.1:p.Asp112=
XM_024447440.1:c.175G= XP_024303208.1:p.Asp59=
NM_001318122.2:c.403G= NP_001305051.1:p.Asp135=
NM_000476.3:c.355G= MANE Select NP_000467.1:p.Asp119=
NR_174625.1:n.3674G=
NR_174626.1:n.3524-7G=
NR_174627.1:n.3554G=
NR_174628.1:n.2932G=
NR_174629.1:n.2877G=
NR_174630.1:n.2913G=
NR_174631.1:n.2858G=
NR_174632.1:n.2947G=