Canonical Allele Identifier: CA2473585410
Gene: UROD HGNC NCBI

Linked Data

dbSNP Id: rs1644826261

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45013859dup , CM000663.2:g.45013859dup GRCh38
NC_000001.10:g.45479531dup , CM000663.1:g.45479531dup GRCh37
NC_000001.9:g.45252118dup NCBI36
NG_007122.2:g.6702dup
NG_033058.1:g.2500dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000246337.9:c.475-50dup MANE Select ENSP00000246337.4:n.475-50dup
ENST00000434478.6:c.529-50dup ENSP00000404489.2:n.529-50dup
ENST00000491773.6:c.370-50dup ENSP00000498551.1:n.370-50dup
ENST00000636293.1:c.475-50dup ENSP00000490710.1:n.475-50dup
ENST00000636836.1:c.475-50dup ENSP00000490594.1:n.475-50dup
ENST00000651476.1:c.370-50dup ENSP00000498668.1:n.370-50dup
ENST00000652165.1:c.370-50dup ENSP00000498295.1:n.370-50dup
ENST00000652287.1:c.412-50dup ENSP00000498413.1:n.412-50dup
ENST00000652514.1:c.436-50dup ENSP00000498635.1:n.436-50dup
ENST00000246337.8:c.475-50dup ENSP00000246337.4:n.475-50dup
ENST00000428106.1:c.454+68dup
ENST00000434478.5:c.412-50dup ENSP00000404489.1:n.412-50dup
ENST00000460334.5:n.502-50dup
ENST00000460906.5:n.559dup
ENST00000462688.5:n.602-50dup
ENST00000463092.5:n.938dup
ENST00000469548.5:n.671-50dup
ENST00000473012.1:n.522-50dup
ENST00000478467.5:n.478-50dup
ENST00000486699.5:n.595-50dup
ENST00000490385.5:n.549-50dup
ENST00000491300.5:n.594-50dup
ENST00000491773.5:n.629-50dup
ENST00000494399.5:n.615-50dup
ENST00000496439.1:n.521dup
NM_000374.4:c.475-50dup NP_000365.3:n.475-50dup
NR_036510.1:n.658-50dup
XM_005271169.1:c.259-50dup XP_005271226.1:n.259-50dup
XM_005271170.1:c.259-50dup XP_005271227.1:n.259-50dup
XM_011542080.1:c.412-50dup XP_011540382.1:n.412-50dup
XM_011542081.1:c.307-50dup XP_011540383.1:n.307-50dup
NM_000374.5:c.475-50dup MANE Select NP_000365.3:n.475-50dup
NR_158184.1:n.556-50dup
NR_158185.1:n.506-50dup
NR_036510.2:n.537-50dup