Canonical Allele Identifier: CA347298906
Gene: DGUOK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73946762A>T , CM000664.2:g.73946762A>T GRCh38
NC_000002.11:g.74173889A>T , CM000664.1:g.74173889A>T GRCh37
NC_000002.10:g.74027397A>T NCBI36
NG_008044.1:g.24937A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264093.9:c.299A>T MANE Select ENSP00000264093.4:p.Tyr100Phe
ENST00000264093.8:c.299A>T ENSP00000264093.4:p.Tyr100Phe
ENST00000348222.3:c.299A>T ENSP00000306964.3:p.Tyr100Phe
ENST00000418996.5:c.186A>T ENSP00000408209.1:p.Val62=
ENST00000462551.1:n.204A>T
ENST00000462685.1:n.286A>T
ENST00000489796.5:n.316A>T
ENST00000493055.1:n.302A>T
ENST00000629438.2:c.186A>T ENSP00000487122.1:p.Val62=
NM_080916.2:c.299A>T NP_550438.1:p.Tyr100Phe
NM_080918.2:c.299A>T NP_550440.1:p.Tyr100Phe
XM_005264173.2:c.8A>T XP_005264230.1:p.Tyr3Phe
XM_005264174.1:c.8A>T XP_005264231.1:p.Tyr3Phe
XM_011532647.1:c.299A>T XP_011530949.1:p.Tyr100Phe
XM_011532648.1:c.8A>T XP_011530950.1:p.Tyr3Phe
XR_244926.2:n.380A>T
NM_001318859.1:c.299A>T NP_001305788.1:p.Tyr100Phe
NM_001318860.1:c.8A>T NP_001305789.1:p.Tyr3Phe
NM_001318861.1:c.8A>T NP_001305790.1:p.Tyr3Phe
NM_001318862.1:c.8A>T NP_001305791.1:p.Tyr3Phe
NM_001318863.1:c.8A>T NP_001305792.1:p.Tyr3Phe
NR_134893.1:n.271A>T
NR_134894.1:n.271A>T
NR_134895.1:n.228-11384A>T
NR_134896.1:n.271A>T
NR_134897.1:n.357A>T
NR_134898.1:n.271A>T
XM_011532647.2:c.299A>T XP_011530949.1:p.Tyr100Phe
XM_024452739.1:c.8A>T XP_024308507.1:p.Tyr3Phe
XR_001738656.1:n.383A>T
XR_244926.3:n.382A>T
NM_080916.3:c.299A>T MANE Select NP_550438.1:p.Tyr100Phe
NM_001318859.2:c.299A>T NP_001305788.1:p.Tyr100Phe
NM_001318860.2:c.8A>T NP_001305789.1:p.Tyr3Phe
NM_001318861.2:c.8A>T NP_001305790.1:p.Tyr3Phe
NM_001318862.2:c.8A>T NP_001305791.1:p.Tyr3Phe
NM_001318863.2:c.8A>T NP_001305792.1:p.Tyr3Phe
NM_080918.3:c.299A>T NP_550440.1:p.Tyr100Phe
NR_134893.2:n.217A>T
NR_134894.2:n.217A>T
NR_134895.2:n.174-11384A>T
NR_134896.2:n.217A>T
NR_134897.2:n.303A>T
NR_134898.2:n.217A>T