Canonical Allele Identifier: CA16604404
Gene: DGUOK HGNC NCBI

Linked Data

ClinVar Variation Id: 393268
ClinVar RCV Id: RCV000419076
dbSNP Id: rs1057524864
gnomAD v4: 2-73946907-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73946907G>A , CM000664.2:g.73946907G>A GRCh38
NC_000002.11:g.74174034G>A , CM000664.1:g.74174034G>A GRCh37
NC_000002.10:g.74027542G>A NCBI36
NG_008044.1:g.25082G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264093.9:c.443+1G>A MANE Select ENSP00000264093.4:n.443+1G>A
ENST00000264093.8:c.443+1G>A ENSP00000264093.4:n.443+1G>A
ENST00000348222.3:c.443+1G>A ENSP00000306964.3:n.443+1G>A
ENST00000418996.5:c.*60+1G>A ENSP00000408209.1:n.*60+1G>A
ENST00000462551.1:n.349G>A
ENST00000462685.1:n.430+1G>A
ENST00000489796.5:n.460+1G>A
ENST00000493055.1:n.447G>A
ENST00000629438.2:c.*60+1G>A ENSP00000487122.1:n.*60+1G>A
NM_080916.2:c.443+1G>A NP_550438.1:n.443+1G>A
NM_080918.2:c.443+1G>A NP_550440.1:n.443+1G>A
XM_005264173.2:c.152+1G>A XP_005264230.1:n.152+1G>A
XM_005264174.1:c.152+1G>A XP_005264231.1:n.152+1G>A
XM_011532647.1:c.425+19G>A XP_011530949.1:n.425+19G>A
XM_011532648.1:c.134+19G>A XP_011530950.1:n.134+19G>A
XR_244926.2:n.524+1G>A
NM_001318859.1:c.425+19G>A NP_001305788.1:n.425+19G>A
NM_001318860.1:c.152+1G>A NP_001305789.1:n.152+1G>A
NM_001318861.1:c.152+1G>A NP_001305790.1:n.152+1G>A
NM_001318862.1:c.134+19G>A NP_001305791.1:n.134+19G>A
NM_001318863.1:c.134+19G>A NP_001305792.1:n.134+19G>A
NR_134893.1:n.415+1G>A
NR_134894.1:n.415+1G>A
NR_134895.1:n.228-11239G>A
NR_134896.1:n.397+19G>A
NR_134897.1:n.501+1G>A
NR_134898.1:n.415+1G>A
XM_011532647.2:c.425+19G>A XP_011530949.1:n.425+19G>A
XM_024452739.1:c.152+1G>A XP_024308507.1:n.152+1G>A
XR_001738656.1:n.527+1G>A
XR_244926.3:n.526+1G>A
NM_080916.3:c.443+1G>A MANE Select NP_550438.1:n.443+1G>A
NM_001318859.2:c.425+19G>A NP_001305788.1:n.425+19G>A
NM_001318860.2:c.152+1G>A NP_001305789.1:n.152+1G>A
NM_001318861.2:c.152+1G>A NP_001305790.1:n.152+1G>A
NM_001318862.2:c.134+19G>A NP_001305791.1:n.134+19G>A
NM_001318863.2:c.134+19G>A NP_001305792.1:n.134+19G>A
NM_080918.3:c.443+1G>A NP_550440.1:n.443+1G>A
NR_134893.2:n.361+1G>A
NR_134894.2:n.361+1G>A
NR_134895.2:n.174-11239G>A
NR_134896.2:n.343+19G>A
NR_134897.2:n.447+1G>A
NR_134898.2:n.361+1G>A