Canonical Allele Identifier: CA347302036

Gene: DGUOK DGUOK-AS1

Linked Data

• MyVariant Identifiers: chr2:g.74185361C>A (hg19) ; chr2:g.73958234C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958234C>A , CM000664.2:g.73958234C>A	GRCh38
NC_000002.11:g.74185361C>A , CM000664.1:g.74185361C>A	GRCh37
NC_000002.10:g.74038869C>A	NCBI36
NG_008044.1:g.36409C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.796C>A (DGUOK) MANE Select	ENSP00000264093.4:p.Leu266Ile
ENST00000264093.8:c.796C>A (DGUOK)	ENSP00000264093.4:p.Leu266Ile
ENST00000348222.3:c.532C>A (DGUOK)	ENSP00000306964.3:p.Leu178Ile
ENST00000418996.5:c.*149C>A (DGUOK)	ENSP00000408209.1:n.*149C>A
ENST00000462685.1:n.625C>A (DGUOK)
ENST00000489796.5:n.681C>A (DGUOK)
ENST00000629438.2:c.*413C>A (DGUOK)	ENSP00000487122.1:n.*413C>A
NM_080916.2:c.796C>A (DGUOK)	NP_550438.1:p.Leu266Ile
NM_080918.2:c.532C>A (DGUOK)	NP_550440.1:p.Leu178Ile
NR_104029.1:n.332-27G>T (DGUOK-AS1)
NR_104030.1:n.306-27G>T (DGUOK-AS1)
XM_005264173.2:c.505C>A (DGUOK)	XP_005264230.1:p.Leu169Ile
XM_005264174.1:c.505C>A (DGUOK)	XP_005264231.1:p.Leu169Ile
XM_011532647.1:c.778C>A (DGUOK)	XP_011530949.1:p.Leu260Ile
XM_011532648.1:c.487C>A (DGUOK)	XP_011530950.1:p.Leu163Ile
XR_244926.2:n.761C>A (DGUOK)
NM_001318859.1:c.514C>A (DGUOK)	NP_001305788.1:p.Leu172Ile
NM_001318860.1:c.505C>A (DGUOK)	NP_001305789.1:p.Leu169Ile
NM_001318861.1:c.505C>A (DGUOK)	NP_001305790.1:p.Leu169Ile
NM_001318862.1:c.487C>A (DGUOK)	NP_001305791.1:p.Leu163Ile
NM_001318863.1:c.487C>A (DGUOK)	NP_001305792.1:p.Leu163Ile
NR_134893.1:n.504C>A (DGUOK)
NR_134894.1:n.652C>A (DGUOK)
NR_134895.1:n.316C>A (DGUOK)
NR_134896.1:n.486C>A (DGUOK)
NR_134897.1:n.696C>A (DGUOK)
NR_134898.1:n.620C>A (DGUOK)
XM_011532647.2:c.778C>A (DGUOK)	XP_011530949.1:p.Leu260Ile
XM_024452739.1:c.505C>A (DGUOK)	XP_024308507.1:p.Leu169Ile
XR_001738656.1:n.732C>A (DGUOK)
XR_244926.3:n.763C>A (DGUOK)
NM_080916.3:c.796C>A (DGUOK) MANE Select	NP_550438.1:p.Leu266Ile
NM_001318859.2:c.514C>A (DGUOK)	NP_001305788.1:p.Leu172Ile
NM_001318860.2:c.505C>A (DGUOK)	NP_001305789.1:p.Leu169Ile
NM_001318861.2:c.505C>A (DGUOK)	NP_001305790.1:p.Leu169Ile
NM_001318862.2:c.487C>A (DGUOK)	NP_001305791.1:p.Leu163Ile
NM_001318863.2:c.487C>A (DGUOK)	NP_001305792.1:p.Leu163Ile
NM_080918.3:c.532C>A (DGUOK)	NP_550440.1:p.Leu178Ile
NR_134893.2:n.450C>A (DGUOK)
NR_134894.2:n.598C>A (DGUOK)
NR_134895.2:n.262C>A (DGUOK)
NR_134896.2:n.432C>A (DGUOK)
NR_134897.2:n.642C>A (DGUOK)
NR_134898.2:n.566C>A (DGUOK)