Canonical Allele Identifier: CA347301879

Gene: DGUOK DGUOK-AS1

Linked Data

• MyVariant Identifiers: chr2:g.74185290T>C (hg19) ; chr2:g.73958163T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958163T>C , CM000664.2:g.73958163T>C	GRCh38
NC_000002.11:g.74185290T>C , CM000664.1:g.74185290T>C	GRCh37
NC_000002.10:g.74038798T>C	NCBI36
NG_008044.1:g.36338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.725T>C (DGUOK) MANE Select	ENSP00000264093.4:p.Leu242Pro
ENST00000264093.8:c.725T>C (DGUOK)	ENSP00000264093.4:p.Leu242Pro
ENST00000348222.3:c.461T>C (DGUOK)	ENSP00000306964.3:p.Leu154Pro
ENST00000418996.5:c.*78T>C (DGUOK)	ENSP00000408209.1:n.*78T>C
ENST00000462685.1:n.554T>C (DGUOK)
ENST00000489796.5:n.610T>C (DGUOK)
ENST00000629438.2:c.*342T>C (DGUOK)	ENSP00000487122.1:n.*342T>C
NM_080916.2:c.725T>C (DGUOK)	NP_550438.1:p.Leu242Pro
NM_080918.2:c.461T>C (DGUOK)	NP_550440.1:p.Leu154Pro
NR_104029.1:n.376A>G (DGUOK-AS1)
NR_104030.1:n.350A>G (DGUOK-AS1)
XM_005264173.2:c.434T>C (DGUOK)	XP_005264230.1:p.Leu145Pro
XM_005264174.1:c.434T>C (DGUOK)	XP_005264231.1:p.Leu145Pro
XM_011532647.1:c.707T>C (DGUOK)	XP_011530949.1:p.Leu236Pro
XM_011532648.1:c.416T>C (DGUOK)	XP_011530950.1:p.Leu139Pro
XR_244926.2:n.690T>C (DGUOK)
NM_001318859.1:c.443T>C (DGUOK)	NP_001305788.1:p.Leu148Pro
NM_001318860.1:c.434T>C (DGUOK)	NP_001305789.1:p.Leu145Pro
NM_001318861.1:c.434T>C (DGUOK)	NP_001305790.1:p.Leu145Pro
NM_001318862.1:c.416T>C (DGUOK)	NP_001305791.1:p.Leu139Pro
NM_001318863.1:c.416T>C (DGUOK)	NP_001305792.1:p.Leu139Pro
NR_134893.1:n.433T>C (DGUOK)
NR_134894.1:n.581T>C (DGUOK)
NR_134895.1:n.245T>C (DGUOK)
NR_134896.1:n.415T>C (DGUOK)
NR_134897.1:n.625T>C (DGUOK)
NR_134898.1:n.549T>C (DGUOK)
XM_011532647.2:c.707T>C (DGUOK)	XP_011530949.1:p.Leu236Pro
XM_024452739.1:c.434T>C (DGUOK)	XP_024308507.1:p.Leu145Pro
XR_001738656.1:n.661T>C (DGUOK)
XR_244926.3:n.692T>C (DGUOK)
NM_080916.3:c.725T>C (DGUOK) MANE Select	NP_550438.1:p.Leu242Pro
NM_001318859.2:c.443T>C (DGUOK)	NP_001305788.1:p.Leu148Pro
NM_001318860.2:c.434T>C (DGUOK)	NP_001305789.1:p.Leu145Pro
NM_001318861.2:c.434T>C (DGUOK)	NP_001305790.1:p.Leu145Pro
NM_001318862.2:c.416T>C (DGUOK)	NP_001305791.1:p.Leu139Pro
NM_001318863.2:c.416T>C (DGUOK)	NP_001305792.1:p.Leu139Pro
NM_080918.3:c.461T>C (DGUOK)	NP_550440.1:p.Leu154Pro
NR_134893.2:n.379T>C (DGUOK)
NR_134894.2:n.527T>C (DGUOK)
NR_134895.2:n.191T>C (DGUOK)
NR_134896.2:n.361T>C (DGUOK)
NR_134897.2:n.571T>C (DGUOK)
NR_134898.2:n.495T>C (DGUOK)