Canonical Allele Identifier: CA1261201372
Gene: DGUOK HGNC NCBI
DGUOK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73958187T= , CM000664.2:g.73958187T= GRCh38
NC_000002.11:g.74185314T= , CM000664.1:g.74185314T= GRCh37
NC_000002.10:g.74038822T= NCBI36
NG_008044.1:g.36362T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264093.9:c.749T= (DGUOK) MANE Select ENSP00000264093.4:p.Leu250=
ENST00000264093.8:c.749T= (DGUOK) ENSP00000264093.4:p.Leu250=
ENST00000348222.3:c.485T= (DGUOK) ENSP00000306964.3:p.Leu162=
ENST00000418996.5:c.*102T= (DGUOK) ENSP00000408209.1:n.*102T=
ENST00000462685.1:n.578T= (DGUOK)
ENST00000489796.5:n.634T= (DGUOK)
ENST00000629438.2:c.*366T= (DGUOK) ENSP00000487122.1:n.*366T=
NM_080916.2:c.749T= (DGUOK) NP_550438.1:p.Leu250=
NM_080918.2:c.485T= (DGUOK) NP_550440.1:p.Leu162=
NR_104029.1:n.352A= (DGUOK-AS1)
NR_104030.1:n.326A= (DGUOK-AS1)
XM_005264173.2:c.458T= (DGUOK) XP_005264230.1:p.Leu153=
XM_005264174.1:c.458T= (DGUOK) XP_005264231.1:p.Leu153=
XM_011532647.1:c.731T= (DGUOK) XP_011530949.1:p.Leu244=
XM_011532648.1:c.440T= (DGUOK) XP_011530950.1:p.Leu147=
XR_244926.2:n.714T= (DGUOK)
NM_001318859.1:c.467T= (DGUOK) NP_001305788.1:p.Leu156=
NM_001318860.1:c.458T= (DGUOK) NP_001305789.1:p.Leu153=
NM_001318861.1:c.458T= (DGUOK) NP_001305790.1:p.Leu153=
NM_001318862.1:c.440T= (DGUOK) NP_001305791.1:p.Leu147=
NM_001318863.1:c.440T= (DGUOK) NP_001305792.1:p.Leu147=
NR_134893.1:n.457T= (DGUOK)
NR_134894.1:n.605T= (DGUOK)
NR_134895.1:n.269T= (DGUOK)
NR_134896.1:n.439T= (DGUOK)
NR_134897.1:n.649T= (DGUOK)
NR_134898.1:n.573T= (DGUOK)
XM_011532647.2:c.731T= (DGUOK) XP_011530949.1:p.Leu244=
XM_024452739.1:c.458T= (DGUOK) XP_024308507.1:p.Leu153=
XR_001738656.1:n.685T= (DGUOK)
XR_244926.3:n.716T= (DGUOK)
NM_080916.3:c.749T= (DGUOK) MANE Select NP_550438.1:p.Leu250=
NM_001318859.2:c.467T= (DGUOK) NP_001305788.1:p.Leu156=
NM_001318860.2:c.458T= (DGUOK) NP_001305789.1:p.Leu153=
NM_001318861.2:c.458T= (DGUOK) NP_001305790.1:p.Leu153=
NM_001318862.2:c.440T= (DGUOK) NP_001305791.1:p.Leu147=
NM_001318863.2:c.440T= (DGUOK) NP_001305792.1:p.Leu147=
NM_080918.3:c.485T= (DGUOK) NP_550440.1:p.Leu162=
NR_134893.2:n.403T= (DGUOK)
NR_134894.2:n.551T= (DGUOK)
NR_134895.2:n.215T= (DGUOK)
NR_134896.2:n.385T= (DGUOK)
NR_134897.2:n.595T= (DGUOK)
NR_134898.2:n.519T= (DGUOK)