Canonical Allele Identifier: CA347301930

Gene: DGUOK DGUOK-AS1

Linked Data

• dbSNP Id: rs1315873661
• gnomAD v4: 2-73958188-G-T
• MyVariant Identifiers: chr2:g.74185315G>T (hg19) ; chr2:g.73958188G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958188G>T , CM000664.2:g.73958188G>T	GRCh38
NC_000002.11:g.74185315G>T , CM000664.1:g.74185315G>T	GRCh37
NC_000002.10:g.74038823G>T	NCBI36
NG_008044.1:g.36363G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.750G>T (DGUOK) MANE Select	ENSP00000264093.4:p.Leu250Phe
ENST00000264093.8:c.750G>T (DGUOK)	ENSP00000264093.4:p.Leu250Phe
ENST00000348222.3:c.486G>T (DGUOK)	ENSP00000306964.3:p.Leu162Phe
ENST00000418996.5:c.*103G>T (DGUOK)	ENSP00000408209.1:n.*103G>T
ENST00000462685.1:n.579G>T (DGUOK)
ENST00000489796.5:n.635G>T (DGUOK)
ENST00000629438.2:c.*367G>T (DGUOK)	ENSP00000487122.1:n.*367G>T
NM_080916.2:c.750G>T (DGUOK)	NP_550438.1:p.Leu250Phe
NM_080918.2:c.486G>T (DGUOK)	NP_550440.1:p.Leu162Phe
NR_104029.1:n.351C>A (DGUOK-AS1)
NR_104030.1:n.325C>A (DGUOK-AS1)
XM_005264173.2:c.459G>T (DGUOK)	XP_005264230.1:p.Leu153Phe
XM_005264174.1:c.459G>T (DGUOK)	XP_005264231.1:p.Leu153Phe
XM_011532647.1:c.732G>T (DGUOK)	XP_011530949.1:p.Leu244Phe
XM_011532648.1:c.441G>T (DGUOK)	XP_011530950.1:p.Leu147Phe
XR_244926.2:n.715G>T (DGUOK)
NM_001318859.1:c.468G>T (DGUOK)	NP_001305788.1:p.Leu156Phe
NM_001318860.1:c.459G>T (DGUOK)	NP_001305789.1:p.Leu153Phe
NM_001318861.1:c.459G>T (DGUOK)	NP_001305790.1:p.Leu153Phe
NM_001318862.1:c.441G>T (DGUOK)	NP_001305791.1:p.Leu147Phe
NM_001318863.1:c.441G>T (DGUOK)	NP_001305792.1:p.Leu147Phe
NR_134893.1:n.458G>T (DGUOK)
NR_134894.1:n.606G>T (DGUOK)
NR_134895.1:n.270G>T (DGUOK)
NR_134896.1:n.440G>T (DGUOK)
NR_134897.1:n.650G>T (DGUOK)
NR_134898.1:n.574G>T (DGUOK)
XM_011532647.2:c.732G>T (DGUOK)	XP_011530949.1:p.Leu244Phe
XM_024452739.1:c.459G>T (DGUOK)	XP_024308507.1:p.Leu153Phe
XR_001738656.1:n.686G>T (DGUOK)
XR_244926.3:n.717G>T (DGUOK)
NM_080916.3:c.750G>T (DGUOK) MANE Select	NP_550438.1:p.Leu250Phe
NM_001318859.2:c.468G>T (DGUOK)	NP_001305788.1:p.Leu156Phe
NM_001318860.2:c.459G>T (DGUOK)	NP_001305789.1:p.Leu153Phe
NM_001318861.2:c.459G>T (DGUOK)	NP_001305790.1:p.Leu153Phe
NM_001318862.2:c.441G>T (DGUOK)	NP_001305791.1:p.Leu147Phe
NM_001318863.2:c.441G>T (DGUOK)	NP_001305792.1:p.Leu147Phe
NM_080918.3:c.486G>T (DGUOK)	NP_550440.1:p.Leu162Phe
NR_134893.2:n.404G>T (DGUOK)
NR_134894.2:n.552G>T (DGUOK)
NR_134895.2:n.216G>T (DGUOK)
NR_134896.2:n.386G>T (DGUOK)
NR_134897.2:n.596G>T (DGUOK)
NR_134898.2:n.520G>T (DGUOK)