Canonical Allele Identifier: CA269923

Gene: DGUOK

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73946750T>C , CM000664.2:g.73946750T>C	GRCh38
NC_000002.11:g.74173877T>C , CM000664.1:g.74173877T>C	GRCh37
NC_000002.10:g.74027385T>C	NCBI36
NG_008044.1:g.24925T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.287T>C MANE Select	ENSP00000264093.4:p.Leu96Pro
ENST00000264093.8:c.287T>C	ENSP00000264093.4:p.Leu96Pro
ENST00000348222.3:c.287T>C	ENSP00000306964.3:p.Leu96Pro
ENST00000418996.5:c.174T>C	ENSP00000408209.1:p.Ala58=
ENST00000462551.1:n.192T>C
ENST00000462685.1:n.274T>C
ENST00000489796.5:n.304T>C
ENST00000493055.1:n.290T>C
ENST00000629438.2:c.174T>C	ENSP00000487122.1:p.Ala58=
NM_080916.2:c.287T>C	NP_550438.1:p.Leu96Pro
NM_080918.2:c.287T>C	NP_550440.1:p.Leu96Pro
XM_005264173.2:c.-5T>C	XP_005264230.1:n.-5T>C
XM_005264174.1:c.-5T>C	XP_005264231.1:n.-5T>C
XM_011532647.1:c.287T>C	XP_011530949.1:p.Leu96Pro
XM_011532648.1:c.-5T>C	XP_011530950.1:n.-5T>C
XR_244926.2:n.368T>C
NM_001318859.1:c.287T>C	NP_001305788.1:p.Leu96Pro
NM_001318860.1:c.-5T>C	NP_001305789.1:n.-5T>C
NM_001318861.1:c.-5T>C	NP_001305790.1:n.-5T>C
NM_001318862.1:c.-5T>C	NP_001305791.1:n.-5T>C
NM_001318863.1:c.-5T>C	NP_001305792.1:n.-5T>C
NR_134893.1:n.259T>C
NR_134894.1:n.259T>C
NR_134895.1:n.228-11396T>C
NR_134896.1:n.259T>C
NR_134897.1:n.345T>C
NR_134898.1:n.259T>C
XM_011532647.2:c.287T>C	XP_011530949.1:p.Leu96Pro
XM_024452739.1:c.-5T>C	XP_024308507.1:n.-5T>C
XR_001738656.1:n.371T>C
XR_244926.3:n.370T>C
NM_080916.3:c.287T>C MANE Select	NP_550438.1:p.Leu96Pro
NM_001318859.2:c.287T>C	NP_001305788.1:p.Leu96Pro
NM_001318860.2:c.-5T>C	NP_001305789.1:n.-5T>C
NM_001318861.2:c.-5T>C	NP_001305790.1:n.-5T>C
NM_001318862.2:c.-5T>C	NP_001305791.1:n.-5T>C
NM_001318863.2:c.-5T>C	NP_001305792.1:n.-5T>C
NM_080918.3:c.287T>C	NP_550440.1:p.Leu96Pro
NR_134893.2:n.205T>C
NR_134894.2:n.205T>C
NR_134895.2:n.174-11396T>C
NR_134896.2:n.205T>C
NR_134897.2:n.291T>C
NR_134898.2:n.205T>C