Canonical Allele Identifier: CA323619

Gene: DGUOK DGUOK-AS1

Linked Data

• ClinVar Variation Id: 214279
• ClinVar RCV Id: RCV000199079 ; RCV000311088 ; RCV000726891 ; RCV002517205
• dbSNP Id: rs370071744
• ExAC: 2:74185270 T / C
• gnomAD v2: 2-74185270-T-C
• gnomAD v3: 2-73958143-T-C
• gnomAD v4: 2-73958143-T-C
• MyVariant Identifiers: chr2:g.74185270T>C (hg19) ; chr2:g.73958143T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958143T>C , CM000664.2:g.73958143T>C	GRCh38
NC_000002.11:g.74185270T>C , CM000664.1:g.74185270T>C	GRCh37
NC_000002.10:g.74038778T>C	NCBI36
NG_008044.1:g.36318T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264093.9:c.708-3T>C (DGUOK) MANE Select	ENSP00000264093.4:n.708-3T>C
ENST00000264093.8:c.708-3T>C (DGUOK)	ENSP00000264093.4:n.708-3T>C
ENST00000348222.3:c.444-3T>C (DGUOK)	ENSP00000306964.3:n.444-3T>C
ENST00000418996.5:c.*61-3T>C (DGUOK)	ENSP00000408209.1:n.*61-3T>C
ENST00000462685.1:n.537-3T>C (DGUOK)
ENST00000489796.5:n.593-3T>C (DGUOK)
ENST00000629438.2:c.*325-3T>C (DGUOK)	ENSP00000487122.1:n.*325-3T>C
NM_080916.2:c.708-3T>C (DGUOK)	NP_550438.1:n.708-3T>C
NM_080918.2:c.444-3T>C (DGUOK)	NP_550440.1:n.444-3T>C
NR_104029.1:n.396A>G (DGUOK-AS1)
NR_104030.1:n.370A>G (DGUOK-AS1)
XM_005264173.2:c.417-3T>C (DGUOK)	XP_005264230.1:n.417-3T>C
XM_005264174.1:c.417-3T>C (DGUOK)	XP_005264231.1:n.417-3T>C
XM_011532647.1:c.690-3T>C (DGUOK)	XP_011530949.1:n.690-3T>C
XM_011532648.1:c.399-3T>C (DGUOK)	XP_011530950.1:n.399-3T>C
XR_244926.2:n.673-3T>C (DGUOK)
NM_001318859.1:c.426-3T>C (DGUOK)	NP_001305788.1:n.426-3T>C
NM_001318860.1:c.417-3T>C (DGUOK)	NP_001305789.1:n.417-3T>C
NM_001318861.1:c.417-3T>C (DGUOK)	NP_001305790.1:n.417-3T>C
NM_001318862.1:c.399-3T>C (DGUOK)	NP_001305791.1:n.399-3T>C
NM_001318863.1:c.399-3T>C (DGUOK)	NP_001305792.1:n.399-3T>C
NR_134893.1:n.416-3T>C (DGUOK)
NR_134894.1:n.564-3T>C (DGUOK)
NR_134895.1:n.228-3T>C (DGUOK)
NR_134896.1:n.398-3T>C (DGUOK)
NR_134897.1:n.608-3T>C (DGUOK)
NR_134898.1:n.532-3T>C (DGUOK)
XM_011532647.2:c.690-3T>C (DGUOK)	XP_011530949.1:n.690-3T>C
XM_024452739.1:c.417-3T>C (DGUOK)	XP_024308507.1:n.417-3T>C
XR_001738656.1:n.644-3T>C (DGUOK)
XR_244926.3:n.675-3T>C (DGUOK)
NM_080916.3:c.708-3T>C (DGUOK) MANE Select	NP_550438.1:n.708-3T>C
NM_001318859.2:c.426-3T>C (DGUOK)	NP_001305788.1:n.426-3T>C
NM_001318860.2:c.417-3T>C (DGUOK)	NP_001305789.1:n.417-3T>C
NM_001318861.2:c.417-3T>C (DGUOK)	NP_001305790.1:n.417-3T>C
NM_001318862.2:c.399-3T>C (DGUOK)	NP_001305791.1:n.399-3T>C
NM_001318863.2:c.399-3T>C (DGUOK)	NP_001305792.1:n.399-3T>C
NM_080918.3:c.444-3T>C (DGUOK)	NP_550440.1:n.444-3T>C
NR_134893.2:n.362-3T>C (DGUOK)
NR_134894.2:n.510-3T>C (DGUOK)
NR_134895.2:n.174-3T>C (DGUOK)
NR_134896.2:n.344-3T>C (DGUOK)
NR_134897.2:n.554-3T>C (DGUOK)
NR_134898.2:n.478-3T>C (DGUOK)