Canonical Allele Identifier: CA1718321

Gene: DGUOK

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73957208A>G , CM000664.2:g.73957208A>G	GRCh38
NC_000002.11:g.74184335A>G , CM000664.1:g.74184335A>G	GRCh37
NC_000002.10:g.74037843A>G	NCBI36
NG_008044.1:g.35383A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_080916.3:c.675A>G MANE Select	NP_550438.1:p.Gln225=
ENST00000264093.9:c.675A>G MANE Select	ENSP00000264093.4:p.Gln225=
NM_001318859.1:c.426-938A>G	NP_001305788.1:n.426-938A>G
NM_001318859.2:c.426-938A>G	NP_001305788.1:n.426-938A>G
NM_001318860.1:c.384A>G	NP_001305789.1:p.Gln128=
NM_001318860.2:c.384A>G	NP_001305789.1:p.Gln128=
NM_001318861.1:c.384A>G	NP_001305790.1:p.Gln128=
NM_001318861.2:c.384A>G	NP_001305790.1:p.Gln128=
NM_001318862.1:c.366A>G	NP_001305791.1:p.Gln122=
NM_001318862.2:c.366A>G	NP_001305791.1:p.Gln122=
NM_001318863.1:c.366A>G	NP_001305792.1:p.Gln122=
NM_001318863.2:c.366A>G	NP_001305792.1:p.Gln122=
NM_080916.2:c.675A>G	NP_550438.1:p.Gln225=
NM_080918.2:c.444-938A>G	NP_550440.1:n.444-938A>G
NM_080918.3:c.444-938A>G	NP_550440.1:n.444-938A>G
NR_134893.1:n.416-938A>G
NR_134893.2:n.362-938A>G
NR_134894.1:n.564-938A>G
NR_134894.2:n.510-938A>G
NR_134895.1:n.228-938A>G
NR_134895.2:n.174-938A>G
NR_134896.1:n.398-938A>G
NR_134896.2:n.344-938A>G
NR_134897.1:n.608-938A>G
NR_134897.2:n.554-938A>G
NR_134898.1:n.499A>G
NR_134898.2:n.445A>G
ENST00000264093.8:c.675A>G	ENSP00000264093.4:p.Gln225=
ENST00000348222.3:c.444-938A>G	ENSP00000306964.3:n.444-938A>G
ENST00000418996.5:c.*61-938A>G	ENSP00000408209.1:n.*61-938A>G
ENST00000462685.1:n.537-938A>G
ENST00000489796.5:n.593-938A>G
ENST00000629438.2:c.*292A>G	ENSP00000487122.1:n.*292A>G
XM_005264173.2:c.384A>G	XP_005264230.1:p.Gln128=
XM_005264174.1:c.384A>G	XP_005264231.1:p.Gln128=
XM_011532647.1:c.657A>G	XP_011530949.1:p.Gln219=
XM_011532647.2:c.657A>G	XP_011530949.1:p.Gln219=
XM_011532648.1:c.366A>G	XP_011530950.1:p.Gln122=
XM_024452739.1:c.384A>G	XP_024308507.1:p.Gln128=
XR_001738656.1:n.611A>G
XR_244926.2:n.673-938A>G
XR_244926.3:n.675-938A>G