Canonical Allele Identifier: CA1880009270
Gene: AK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127868231G= , CM000671.2:g.127868231G= GRCh38
NC_000009.11:g.130630510G= , CM000671.1:g.130630510G= GRCh37
NC_000009.10:g.129670331G= NCBI36
NG_011792.1:g.14513C=
NG_011792.2:g.14513C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000476274.7:n.1016+90C=
ENST00000643029.1:c.*2191+90C= ENSP00000496586.1:n.*2191+90C=
ENST00000643338.1:c.*2080+90C= ENSP00000495890.1:n.*2080+90C=
ENST00000644144.2:c.516+90C= MANE Select ENSP00000494600.1:n.516+90C=
ENST00000645007.1:c.*2440+90C= ENSP00000494773.1:n.*2440+90C=
ENST00000646171.1:c.*549+90C= ENSP00000495484.1:n.*549+90C=
ENST00000223836.10:c.564+90C= ENSP00000223836.10:n.564+90C=
ENST00000373156.5:c.516+90C= ENSP00000362249.1:n.516+90C=
ENST00000373176.5:c.516+90C= ENSP00000362271.1:n.516+90C=
ENST00000413016.5:c.338+90C=
ENST00000550143.5:c.296+90C= ENSP00000449130.1:n.296+90C=
NM_000476.2:c.516+90C= NP_000467.1:n.516+90C=
XM_005251786.2:c.564+90C= XP_005251843.1:n.564+90C=
XM_011518348.1:c.516+90C= XP_011516650.1:n.516+90C=
XM_011518349.1:c.336+90C= XP_011516651.1:n.336+90C=
NM_001318121.1:c.516+90C= NP_001305050.1:n.516+90C=
NM_001318122.1:c.564+90C= NP_001305051.1:n.564+90C=
XM_017014428.1:c.516+90C= XP_016869917.1:n.516+90C=
XM_024447439.1:c.495+90C= XP_024303207.1:n.495+90C=
XM_024447440.1:c.336+90C= XP_024303208.1:n.336+90C=
NM_001318122.2:c.564+90C= NP_001305051.1:n.564+90C=
NM_000476.3:c.516+90C= MANE Select NP_000467.1:n.516+90C=
NR_174625.1:n.3835+90C=
NR_174626.1:n.3678+90C=
NR_174627.1:n.3715+90C=
NR_174628.1:n.3093+90C=
NR_174629.1:n.3038+90C=
NR_174630.1:n.3074+90C=
NR_174631.1:n.3019+90C=
NR_174632.1:n.3108+90C=