Canonical Allele Identifier: CA347298821

Gene: DGUOK

Linked Data

• MyVariant Identifiers: chr2:g.74173871A>C (hg19) ; chr2:g.73946744A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73946744A>C , CM000664.2:g.73946744A>C	GRCh38
NC_000002.11:g.74173871A>C , CM000664.1:g.74173871A>C	GRCh37
NC_000002.10:g.74027379A>C	NCBI36
NG_008044.1:g.24919A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.281A>C MANE Select	ENSP00000264093.4:p.Asn94Thr
ENST00000264093.8:c.281A>C	ENSP00000264093.4:p.Asn94Thr
ENST00000348222.3:c.281A>C	ENSP00000306964.3:p.Asn94Thr
ENST00000418996.5:c.168A>C	ENSP00000408209.1:p.Lys56Asn
ENST00000462551.1:n.186A>C
ENST00000462685.1:n.268A>C
ENST00000489796.5:n.298A>C
ENST00000493055.1:n.284A>C
ENST00000629438.2:c.168A>C	ENSP00000487122.1:p.Lys56Asn
NM_080916.2:c.281A>C	NP_550438.1:p.Asn94Thr
NM_080918.2:c.281A>C	NP_550440.1:p.Asn94Thr
XM_005264173.2:c.-11A>C	XP_005264230.1:n.-11A>C
XM_005264174.1:c.-11A>C	XP_005264231.1:n.-11A>C
XM_011532647.1:c.281A>C	XP_011530949.1:p.Asn94Thr
XM_011532648.1:c.-11A>C	XP_011530950.1:n.-11A>C
XR_244926.2:n.362A>C
NM_001318859.1:c.281A>C	NP_001305788.1:p.Asn94Thr
NM_001318860.1:c.-11A>C	NP_001305789.1:n.-11A>C
NM_001318861.1:c.-11A>C	NP_001305790.1:n.-11A>C
NM_001318862.1:c.-11A>C	NP_001305791.1:n.-11A>C
NM_001318863.1:c.-11A>C	NP_001305792.1:n.-11A>C
NR_134893.1:n.253A>C
NR_134894.1:n.253A>C
NR_134895.1:n.228-11402A>C
NR_134896.1:n.253A>C
NR_134897.1:n.339A>C
NR_134898.1:n.253A>C
XM_011532647.2:c.281A>C	XP_011530949.1:p.Asn94Thr
XM_024452739.1:c.-11A>C	XP_024308507.1:n.-11A>C
XR_001738656.1:n.365A>C
XR_244926.3:n.364A>C
NM_080916.3:c.281A>C MANE Select	NP_550438.1:p.Asn94Thr
NM_001318859.2:c.281A>C	NP_001305788.1:p.Asn94Thr
NM_001318860.2:c.-11A>C	NP_001305789.1:n.-11A>C
NM_001318861.2:c.-11A>C	NP_001305790.1:n.-11A>C
NM_001318862.2:c.-11A>C	NP_001305791.1:n.-11A>C
NM_001318863.2:c.-11A>C	NP_001305792.1:n.-11A>C
NM_080918.3:c.281A>C	NP_550440.1:p.Asn94Thr
NR_134893.2:n.199A>C
NR_134894.2:n.199A>C
NR_134895.2:n.174-11402A>C
NR_134896.2:n.199A>C
NR_134897.2:n.285A>C
NR_134898.2:n.199A>C