Canonical Allele Identifier: CA1718354
Gene: DGUOK HGNC NCBI
DGUOK-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8155
dbSNP Id: rs763706988

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73958201_73958204dup , CM000664.2:g.73958201_73958204dup GRCh38
NC_000002.11:g.74185328_74185331dup , CM000664.1:g.74185328_74185331dup GRCh37
NC_000002.10:g.74038836_74038839dup NCBI36
NG_008044.1:g.36376_36379dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264093.9:c.763_766dup (DGUOK) MANE Select ENSP00000264093.4:p.Phe256Ter
ENST00000264093.8:c.763_766dup (DGUOK) ENSP00000264093.4:p.Phe256Ter
ENST00000348222.3:c.499_502dup (DGUOK) ENSP00000306964.3:p.Phe168Ter
ENST00000418996.5:c.*116_*119dup (DGUOK) ENSP00000408209.1:n.*116_*119dup
ENST00000462685.1:n.592_595dup (DGUOK)
ENST00000489796.5:n.648_651dup (DGUOK)
ENST00000629438.2:c.*380_*383dup (DGUOK) ENSP00000487122.1:n.*380_*383dup
NM_080916.2:c.763_766dup (DGUOK) NP_550438.1:p.Phe256Ter
NM_080918.2:c.499_502dup (DGUOK) NP_550440.1:p.Phe168Ter
NR_104029.1:n.336_339dup (DGUOK-AS1)
NR_104030.1:n.310_313dup (DGUOK-AS1)
XM_005264173.2:c.472_475dup (DGUOK) XP_005264230.1:p.Phe159Ter
XM_005264174.1:c.472_475dup (DGUOK) XP_005264231.1:p.Phe159Ter
XM_011532647.1:c.745_748dup (DGUOK) XP_011530949.1:p.Phe250Ter
XM_011532648.1:c.454_457dup (DGUOK) XP_011530950.1:p.Phe153Ter
XR_244926.2:n.728_731dup (DGUOK)
NM_001318859.1:c.481_484dup (DGUOK) NP_001305788.1:p.Phe162Ter
NM_001318860.1:c.472_475dup (DGUOK) NP_001305789.1:p.Phe159Ter
NM_001318861.1:c.472_475dup (DGUOK) NP_001305790.1:p.Phe159Ter
NM_001318862.1:c.454_457dup (DGUOK) NP_001305791.1:p.Phe153Ter
NM_001318863.1:c.454_457dup (DGUOK) NP_001305792.1:p.Phe153Ter
NR_134893.1:n.471_474dup (DGUOK)
NR_134894.1:n.619_622dup (DGUOK)
NR_134895.1:n.283_286dup (DGUOK)
NR_134896.1:n.453_456dup (DGUOK)
NR_134897.1:n.663_666dup (DGUOK)
NR_134898.1:n.587_590dup (DGUOK)
XM_011532647.2:c.745_748dup (DGUOK) XP_011530949.1:p.Phe250Ter
XM_024452739.1:c.472_475dup (DGUOK) XP_024308507.1:p.Phe159Ter
XR_001738656.1:n.699_702dup (DGUOK)
XR_244926.3:n.730_733dup (DGUOK)
NM_080916.3:c.763_766dup (DGUOK) MANE Select NP_550438.1:p.Phe256Ter
NM_001318859.2:c.481_484dup (DGUOK) NP_001305788.1:p.Phe162Ter
NM_001318860.2:c.472_475dup (DGUOK) NP_001305789.1:p.Phe159Ter
NM_001318861.2:c.472_475dup (DGUOK) NP_001305790.1:p.Phe159Ter
NM_001318862.2:c.454_457dup (DGUOK) NP_001305791.1:p.Phe153Ter
NM_001318863.2:c.454_457dup (DGUOK) NP_001305792.1:p.Phe153Ter
NM_080918.3:c.499_502dup (DGUOK) NP_550440.1:p.Phe168Ter
NR_134893.2:n.417_420dup (DGUOK)
NR_134894.2:n.565_568dup (DGUOK)
NR_134895.2:n.229_232dup (DGUOK)
NR_134896.2:n.399_402dup (DGUOK)
NR_134897.2:n.609_612dup (DGUOK)
NR_134898.2:n.533_536dup (DGUOK)