Canonical Allele Identifier: CA2659644528
Gene: DGUOK HGNC NCBI
DGUOK-AS1 HGNC NCBI

Linked Data

gnomAD v4: 2-73958310-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73958310T>C , CM000664.2:g.73958310T>C GRCh38
NC_000002.11:g.74185437T>C , CM000664.1:g.74185437T>C GRCh37
NC_000002.10:g.74038945T>C NCBI36
NG_008044.1:g.36485T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264093.9:c.807+65T>C (DGUOK) MANE Select ENSP00000264093.4:n.807+65T>C
ENST00000264093.8:c.807+65T>C (DGUOK) ENSP00000264093.4:n.807+65T>C
ENST00000348222.3:c.543+65T>C (DGUOK) ENSP00000306964.3:n.543+65T>C
ENST00000418996.5:c.*160+65T>C (DGUOK) ENSP00000408209.1:n.*160+65T>C
ENST00000462685.1:n.636+65T>C (DGUOK)
ENST00000629438.2:c.*424+65T>C (DGUOK) ENSP00000487122.1:n.*424+65T>C
NM_080916.2:c.807+65T>C (DGUOK) NP_550438.1:n.807+65T>C
NM_080918.2:c.543+65T>C (DGUOK) NP_550440.1:n.543+65T>C
NR_104029.1:n.332-103A>G (DGUOK-AS1)
NR_104030.1:n.306-103A>G (DGUOK-AS1)
XM_005264173.2:c.516+65T>C (DGUOK) XP_005264230.1:n.516+65T>C
XM_005264174.1:c.516+65T>C (DGUOK) XP_005264231.1:n.516+65T>C
XM_011532647.1:c.789+65T>C (DGUOK) XP_011530949.1:n.789+65T>C
XM_011532648.1:c.498+65T>C (DGUOK) XP_011530950.1:n.498+65T>C
XR_244926.2:n.772+65T>C (DGUOK)
NM_001318859.1:c.525+65T>C (DGUOK) NP_001305788.1:n.525+65T>C
NM_001318860.1:c.516+65T>C (DGUOK) NP_001305789.1:n.516+65T>C
NM_001318861.1:c.516+65T>C (DGUOK) NP_001305790.1:n.516+65T>C
NM_001318862.1:c.498+65T>C (DGUOK) NP_001305791.1:n.498+65T>C
NM_001318863.1:c.498+65T>C (DGUOK) NP_001305792.1:n.498+65T>C
NR_134893.1:n.515+65T>C (DGUOK)
NR_134894.1:n.663+65T>C (DGUOK)
NR_134895.1:n.327+65T>C (DGUOK)
NR_134896.1:n.497+65T>C (DGUOK)
NR_134897.1:n.707+65T>C (DGUOK)
NR_134898.1:n.631+65T>C (DGUOK)
XM_011532647.2:c.789+65T>C (DGUOK) XP_011530949.1:n.789+65T>C
XM_024452739.1:c.516+65T>C (DGUOK) XP_024308507.1:n.516+65T>C
XR_001738656.1:n.743+65T>C (DGUOK)
XR_244926.3:n.774+65T>C (DGUOK)
NM_080916.3:c.807+65T>C (DGUOK) MANE Select NP_550438.1:n.807+65T>C
NM_001318859.2:c.525+65T>C (DGUOK) NP_001305788.1:n.525+65T>C
NM_001318860.2:c.516+65T>C (DGUOK) NP_001305789.1:n.516+65T>C
NM_001318861.2:c.516+65T>C (DGUOK) NP_001305790.1:n.516+65T>C
NM_001318862.2:c.498+65T>C (DGUOK) NP_001305791.1:n.498+65T>C
NM_001318863.2:c.498+65T>C (DGUOK) NP_001305792.1:n.498+65T>C
NM_080918.3:c.543+65T>C (DGUOK) NP_550440.1:n.543+65T>C
NR_134893.2:n.461+65T>C (DGUOK)
NR_134894.2:n.609+65T>C (DGUOK)
NR_134895.2:n.273+65T>C (DGUOK)
NR_134896.2:n.443+65T>C (DGUOK)
NR_134897.2:n.653+65T>C (DGUOK)
NR_134898.2:n.577+65T>C (DGUOK)