Canonical Allele Identifier: CA347301841

Gene: DGUOK DGUOK-AS1

Linked Data

• MyVariant Identifiers: chr2:g.74185274C>A (hg19) ; chr2:g.73958147C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958147C>A , CM000664.2:g.73958147C>A	GRCh38
NC_000002.11:g.74185274C>A , CM000664.1:g.74185274C>A	GRCh37
NC_000002.10:g.74038782C>A	NCBI36
NG_008044.1:g.36322C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.709C>A (DGUOK) MANE Select	ENSP00000264093.4:p.Leu237Ile
ENST00000264093.8:c.709C>A (DGUOK)	ENSP00000264093.4:p.Leu237Ile
ENST00000348222.3:c.445C>A (DGUOK)	ENSP00000306964.3:p.Leu149Ile
ENST00000418996.5:c.*62C>A (DGUOK)	ENSP00000408209.1:n.*62C>A
ENST00000462685.1:n.538C>A (DGUOK)
ENST00000489796.5:n.594C>A (DGUOK)
ENST00000629438.2:c.*326C>A (DGUOK)	ENSP00000487122.1:n.*326C>A
NM_080916.2:c.709C>A (DGUOK)	NP_550438.1:p.Leu237Ile
NM_080918.2:c.445C>A (DGUOK)	NP_550440.1:p.Leu149Ile
NR_104029.1:n.392G>T (DGUOK-AS1)
NR_104030.1:n.366G>T (DGUOK-AS1)
XM_005264173.2:c.418C>A (DGUOK)	XP_005264230.1:p.Leu140Ile
XM_005264174.1:c.418C>A (DGUOK)	XP_005264231.1:p.Leu140Ile
XM_011532647.1:c.691C>A (DGUOK)	XP_011530949.1:p.Leu231Ile
XM_011532648.1:c.400C>A (DGUOK)	XP_011530950.1:p.Leu134Ile
XR_244926.2:n.674C>A (DGUOK)
NM_001318859.1:c.427C>A (DGUOK)	NP_001305788.1:p.Leu143Ile
NM_001318860.1:c.418C>A (DGUOK)	NP_001305789.1:p.Leu140Ile
NM_001318861.1:c.418C>A (DGUOK)	NP_001305790.1:p.Leu140Ile
NM_001318862.1:c.400C>A (DGUOK)	NP_001305791.1:p.Leu134Ile
NM_001318863.1:c.400C>A (DGUOK)	NP_001305792.1:p.Leu134Ile
NR_134893.1:n.417C>A (DGUOK)
NR_134894.1:n.565C>A (DGUOK)
NR_134895.1:n.229C>A (DGUOK)
NR_134896.1:n.399C>A (DGUOK)
NR_134897.1:n.609C>A (DGUOK)
NR_134898.1:n.533C>A (DGUOK)
XM_011532647.2:c.691C>A (DGUOK)	XP_011530949.1:p.Leu231Ile
XM_024452739.1:c.418C>A (DGUOK)	XP_024308507.1:p.Leu140Ile
XR_001738656.1:n.645C>A (DGUOK)
XR_244926.3:n.676C>A (DGUOK)
NM_080916.3:c.709C>A (DGUOK) MANE Select	NP_550438.1:p.Leu237Ile
NM_001318859.2:c.427C>A (DGUOK)	NP_001305788.1:p.Leu143Ile
NM_001318860.2:c.418C>A (DGUOK)	NP_001305789.1:p.Leu140Ile
NM_001318861.2:c.418C>A (DGUOK)	NP_001305790.1:p.Leu140Ile
NM_001318862.2:c.400C>A (DGUOK)	NP_001305791.1:p.Leu134Ile
NM_001318863.2:c.400C>A (DGUOK)	NP_001305792.1:p.Leu134Ile
NM_080918.3:c.445C>A (DGUOK)	NP_550440.1:p.Leu149Ile
NR_134893.2:n.363C>A (DGUOK)
NR_134894.2:n.511C>A (DGUOK)
NR_134895.2:n.175C>A (DGUOK)
NR_134896.2:n.345C>A (DGUOK)
NR_134897.2:n.555C>A (DGUOK)
NR_134898.2:n.479C>A (DGUOK)