Canonical Allele Identifier: CA2659644310
Gene: DGUOK HGNC NCBI

Linked Data

gnomAD v4: 2-73957851-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73957851G>A , CM000664.2:g.73957851G>A GRCh38
NC_000002.11:g.74184978G>A , CM000664.1:g.74184978G>A GRCh37
NC_000002.10:g.74038486G>A NCBI36
NG_008044.1:g.36026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264093.9:c.708-295G>A MANE Select ENSP00000264093.4:n.708-295G>A
ENST00000264093.8:c.708-295G>A ENSP00000264093.4:n.708-295G>A
ENST00000348222.3:c.444-295G>A ENSP00000306964.3:n.444-295G>A
ENST00000418996.5:c.*61-295G>A ENSP00000408209.1:n.*61-295G>A
ENST00000462685.1:n.537-295G>A
ENST00000489796.5:n.593-295G>A
ENST00000629438.2:c.*325-295G>A ENSP00000487122.1:n.*325-295G>A
NM_080916.2:c.708-295G>A NP_550438.1:n.708-295G>A
NM_080918.2:c.444-295G>A NP_550440.1:n.444-295G>A
XM_005264173.2:c.417-295G>A XP_005264230.1:n.417-295G>A
XM_005264174.1:c.417-295G>A XP_005264231.1:n.417-295G>A
XM_011532647.1:c.690-295G>A XP_011530949.1:n.690-295G>A
XM_011532648.1:c.399-295G>A XP_011530950.1:n.399-295G>A
XR_244926.2:n.673-295G>A
NM_001318859.1:c.426-295G>A NP_001305788.1:n.426-295G>A
NM_001318860.1:c.417-295G>A NP_001305789.1:n.417-295G>A
NM_001318861.1:c.417-295G>A NP_001305790.1:n.417-295G>A
NM_001318862.1:c.399-295G>A NP_001305791.1:n.399-295G>A
NM_001318863.1:c.399-295G>A NP_001305792.1:n.399-295G>A
NR_134893.1:n.416-295G>A
NR_134894.1:n.564-295G>A
NR_134895.1:n.228-295G>A
NR_134896.1:n.398-295G>A
NR_134897.1:n.608-295G>A
NR_134898.1:n.532-295G>A
XM_011532647.2:c.690-295G>A XP_011530949.1:n.690-295G>A
XM_024452739.1:c.417-295G>A XP_024308507.1:n.417-295G>A
XR_001738656.1:n.644-295G>A
XR_244926.3:n.675-295G>A
NM_080916.3:c.708-295G>A MANE Select NP_550438.1:n.708-295G>A
NM_001318859.2:c.426-295G>A NP_001305788.1:n.426-295G>A
NM_001318860.2:c.417-295G>A NP_001305789.1:n.417-295G>A
NM_001318861.2:c.417-295G>A NP_001305790.1:n.417-295G>A
NM_001318862.2:c.399-295G>A NP_001305791.1:n.399-295G>A
NM_001318863.2:c.399-295G>A NP_001305792.1:n.399-295G>A
NM_080918.3:c.444-295G>A NP_550440.1:n.444-295G>A
NR_134893.2:n.362-295G>A
NR_134894.2:n.510-295G>A
NR_134895.2:n.174-295G>A
NR_134896.2:n.344-295G>A
NR_134897.2:n.554-295G>A
NR_134898.2:n.478-295G>A