Canonical Allele Identifier: CA1261200895
Community Standard Title: NM_080916.3(DGUOK):c.679G= (p.Glu227=)
Gene: DGUOK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73957212G= , CM000664.2:g.73957212G= GRCh38
NC_000002.11:g.74184339G= , CM000664.1:g.74184339G= GRCh37
NC_000002.10:g.74037847G= NCBI36
NG_008044.1:g.35387G=

Transcript Alleles

HGVS Amino-acid Change
NM_080916.3:c.679G= MANE Select NP_550438.1:p.Glu227=
ENST00000264093.9:c.679G= MANE Select ENSP00000264093.4:p.Glu227=
NM_001318859.1:c.426-934G= NP_001305788.1:n.426-934G=
NM_001318859.2:c.426-934G= NP_001305788.1:n.426-934G=
NM_001318860.1:c.388G= NP_001305789.1:p.Glu130=
NM_001318860.2:c.388G= NP_001305789.1:p.Glu130=
NM_001318861.1:c.388G= NP_001305790.1:p.Glu130=
NM_001318861.2:c.388G= NP_001305790.1:p.Glu130=
NM_001318862.1:c.370G= NP_001305791.1:p.Glu124=
NM_001318862.2:c.370G= NP_001305791.1:p.Glu124=
NM_001318863.1:c.370G= NP_001305792.1:p.Glu124=
NM_001318863.2:c.370G= NP_001305792.1:p.Glu124=
NM_080916.2:c.679G= NP_550438.1:p.Glu227=
NM_080918.2:c.444-934G= NP_550440.1:n.444-934G=
NM_080918.3:c.444-934G= NP_550440.1:n.444-934G=
NR_134893.1:n.416-934G=
NR_134893.2:n.362-934G=
NR_134894.1:n.564-934G=
NR_134894.2:n.510-934G=
NR_134895.1:n.228-934G=
NR_134895.2:n.174-934G=
NR_134896.1:n.398-934G=
NR_134896.2:n.344-934G=
NR_134897.1:n.608-934G=
NR_134897.2:n.554-934G=
NR_134898.1:n.503G=
NR_134898.2:n.449G=
ENST00000264093.8:c.679G= ENSP00000264093.4:p.Glu227=
ENST00000348222.3:c.444-934G= ENSP00000306964.3:n.444-934G=
ENST00000418996.5:c.*61-934G= ENSP00000408209.1:n.*61-934G=
ENST00000462685.1:n.537-934G=
ENST00000489796.5:n.593-934G=
ENST00000629438.2:c.*296G= ENSP00000487122.1:n.*296G=
XM_005264173.2:c.388G= XP_005264230.1:p.Glu130=
XM_005264174.1:c.388G= XP_005264231.1:p.Glu130=
XM_011532647.1:c.661G= XP_011530949.1:p.Glu221=
XM_011532647.2:c.661G= XP_011530949.1:p.Glu221=
XM_011532648.1:c.370G= XP_011530950.1:p.Glu124=
XM_024452739.1:c.388G= XP_024308507.1:p.Glu130=
XR_001738656.1:n.615G=
XR_244926.2:n.673-934G=
XR_244926.3:n.675-934G=