Canonical Allele Identifier: CA3007610867
Community Standard Title: NM_080916.3(DGUOK):c.143-88T>A
Gene: DGUOK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73938822T>A , CM000664.2:g.73938822T>A GRCh38
NC_000002.11:g.74165949T>A , CM000664.1:g.74165949T>A GRCh37
NC_000002.10:g.74019457T>A NCBI36
NG_008044.1:g.16997T>A

Transcript Alleles

HGVS Amino-acid Change
NM_080916.3:c.143-88T>A MANE Select NP_550438.1:n.143-88T>A
ENST00000264093.9:c.143-88T>A MANE Select ENSP00000264093.4:n.143-88T>A
NM_001318859.1:c.143-88T>A NP_001305788.1:n.143-88T>A
NM_001318859.2:c.143-88T>A NP_001305788.1:n.143-88T>A
NM_001318860.1:c.-36-7897T>A NP_001305789.1:n.-36-7897T>A
NM_001318860.2:c.-36-7897T>A NP_001305789.1:n.-36-7897T>A
NM_001318861.1:c.-37+6139T>A NP_001305790.1:n.-37+6139T>A
NM_001318861.2:c.-37+6139T>A NP_001305790.1:n.-37+6139T>A
NM_001318862.1:c.-37+6139T>A NP_001305791.1:n.-37+6139T>A
NM_001318862.2:c.-37+6139T>A NP_001305791.1:n.-37+6139T>A
NM_001318863.1:c.-36-7897T>A NP_001305792.1:n.-36-7897T>A
NM_001318863.2:c.-36-7897T>A NP_001305792.1:n.-36-7897T>A
NM_080916.2:c.143-88T>A NP_550438.1:n.143-88T>A
NM_080918.2:c.143-88T>A NP_550440.1:n.143-88T>A
NM_080918.3:c.143-88T>A NP_550440.1:n.143-88T>A
NR_134893.1:n.228-7897T>A
NR_134893.2:n.174-7897T>A
NR_134894.1:n.228-7897T>A
NR_134894.2:n.174-7897T>A
NR_134895.1:n.227+11770T>A
NR_134895.2:n.173+11770T>A
NR_134896.1:n.228-7897T>A
NR_134896.2:n.174-7897T>A
NR_134897.1:n.313+6139T>A
NR_134897.2:n.259+6139T>A
NR_134898.1:n.228-7897T>A
NR_134898.2:n.174-7897T>A
ENST00000264093.8:c.143-88T>A ENSP00000264093.4:n.143-88T>A
ENST00000348222.3:c.143-88T>A ENSP00000306964.3:n.143-88T>A
ENST00000418996.5:c.143-7897T>A ENSP00000408209.1:n.143-7897T>A
ENST00000462551.1:n.161-7897T>A
ENST00000462685.1:n.242+6139T>A
ENST00000489796.5:n.160-88T>A
ENST00000493055.1:n.146-88T>A
ENST00000629438.2:c.143-7897T>A ENSP00000487122.1:n.143-7897T>A
XM_005264173.2:c.-36-7897T>A XP_005264230.1:n.-36-7897T>A
XM_005264174.1:c.-37+6139T>A XP_005264231.1:n.-37+6139T>A
XM_011532647.1:c.143-88T>A XP_011530949.1:n.143-88T>A
XM_011532647.2:c.143-88T>A XP_011530949.1:n.143-88T>A
XM_011532648.1:c.-37+6139T>A XP_011530950.1:n.-37+6139T>A
XM_024452739.1:c.-149-88T>A XP_024308507.1:n.-149-88T>A
XR_001738656.1:n.227-88T>A
XR_244926.2:n.224-88T>A
XR_244926.3:n.226-88T>A