Canonical Allele Identifier: CA251372
Gene: UROD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 68
ClinVar RCV Id: RCV000000086
dbSNP Id: rs121918058

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45013933G>A , CM000663.2:g.45013933G>A GRCh38
NC_000001.9:g.45252192G>A NCBI36
NC_000001.10:g.45479605G>A , CM000663.1:g.45479605G>A GRCh37
NG_007122.2:g.6776G>A
NG_033058.1:g.2423C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000246337.8:c.499G>A ENSP00000246337.4:p.Glu167Lys
ENST00000428106.1:n.454+142G>A
ENST00000434478.5:c.436G>A ENSP00000404489.1:p.Glu146Lys
ENST00000460334.5:n.526G>A
ENST00000460906.5:n.633G>A
ENST00000462688.5:n.626G>A
ENST00000469548.5:n.695G>A
ENST00000473012.1:n.546G>A
ENST00000478467.5:n.502G>A
ENST00000486699.5:n.619G>A
ENST00000490385.5:n.573G>A
ENST00000491300.5:n.618G>A
ENST00000491773.5:n.653G>A
ENST00000494399.5:n.639G>A
ENST00000496439.1:n.595G>A
NM_000374.4:c.499G>A VV NP_000365.3:p.Glu167Lys
NR_036510.1:n.682G>A
XM_005271169.1:c.283G>A XP_005271226.1:p.Glu95Lys
XM_005271170.1:c.283G>A XP_005271227.1:p.Glu95Lys
XM_011542080.1:c.436G>A XP_011540382.1:p.Glu146Lys
XM_011542081.1:c.331G>A XP_011540383.1:p.Glu111Lys
NM_000374.5:c.499G>A VV
NR_158184.1:n.580G>A
NR_158185.1:n.530G>A