Canonical Allele Identifier: CA1141580776
Gene: UROD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45014803G= , CM000663.2:g.45014803G= GRCh38
NC_000001.10:g.45480475G= , CM000663.1:g.45480475G= GRCh37
NC_000001.9:g.45253062G= NCBI36
NG_007122.2:g.7646G=
NG_033058.1:g.1553C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000246337.9:c.842G= MANE Select ENSP00000246337.4:p.Gly281=
ENST00000491773.6:c.599G= ENSP00000498551.1:p.Gly200=
ENST00000636293.1:c.704G= ENSP00000490710.1:p.Gly235=
ENST00000636836.1:c.842G= ENSP00000490594.1:p.Gly281=
ENST00000651476.1:c.737G= ENSP00000498668.1:p.Gly246=
ENST00000652165.1:c.599G= ENSP00000498295.1:p.Gly200=
ENST00000652287.1:c.779G= ENSP00000498413.1:p.Gly260=
ENST00000652514.1:c.803G= ENSP00000498635.1:n.803G=
ENST00000246337.8:c.842G= ENSP00000246337.4:p.Gly281=
ENST00000428106.1:c.660G=
ENST00000465678.1:n.257G=
ENST00000466193.1:n.265G=
ENST00000469548.5:n.1038G=
ENST00000472254.1:n.595G=
ENST00000478467.5:n.845G=
ENST00000486699.5:n.962G=
ENST00000494399.5:n.1509G=
NM_000374.4:c.842G= NP_000365.3:p.Gly281=
NR_036510.1:n.1025G=
XM_005271169.1:c.626G= XP_005271226.1:p.Gly209=
XM_005271170.1:c.626G= XP_005271227.1:p.Gly209=
XM_011542080.1:c.779G= XP_011540382.1:p.Gly260=
XM_011542081.1:c.674G= XP_011540383.1:p.Gly225=
NM_000374.5:c.842G= MANE Select NP_000365.3:p.Gly281=
NR_158184.1:n.923G=
NR_158185.1:n.873G=
NR_036510.2:n.904G=