Canonical Allele Identifier: CA825249
Gene: UROD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45013786dup , CM000663.2:g.45013786dup GRCh38
NC_000001.10:g.45479458dup , CM000663.1:g.45479458dup GRCh37
NC_000001.9:g.45252045dup NCBI36
NG_007122.2:g.6629dup
NG_033058.1:g.2570dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000246337.9:c.469dup MANE Select ENSP00000246337.4:p.Ala157GlyfsTer11
ENST00000434478.6:c.523dup ENSP00000404489.2:p.Ala175GlyfsTer11
ENST00000491773.6:c.364dup ENSP00000498551.1:p.Ala122GlyfsTer11
ENST00000636293.1:c.469dup ENSP00000490710.1:p.Ala157GlyfsTer11
ENST00000636836.1:c.469dup ENSP00000490594.1:p.Ala157GlyfsTer11
ENST00000651476.1:c.364dup ENSP00000498668.1:p.Ala122GlyfsTer11
ENST00000652165.1:c.364dup ENSP00000498295.1:p.Ala122GlyfsTer11
ENST00000652287.1:c.406dup ENSP00000498413.1:p.Ala136GlyfsTer11
ENST00000652514.1:c.430dup ENSP00000498635.1:n.430dup
ENST00000246337.8:c.469dup ENSP00000246337.4:p.Ala157GlyfsTer11
ENST00000428106.1:c.449dup
ENST00000434478.5:c.406dup ENSP00000404489.1:p.Ala136GlyfsTer11
ENST00000460334.5:n.496dup
ENST00000460906.5:n.486dup
ENST00000462688.5:n.596dup
ENST00000463092.5:n.865dup
ENST00000469548.5:n.665dup
ENST00000473012.1:n.516dup
ENST00000478467.5:n.472dup
ENST00000486699.5:n.589dup
ENST00000490385.5:n.543dup
ENST00000491300.5:n.588dup
ENST00000491773.5:n.623dup
ENST00000494399.5:n.609dup
ENST00000496439.1:n.448dup
NM_000374.4:c.469dup NP_000365.3:p.Ala157GlyfsTer11
NR_036510.1:n.652dup
XM_005271169.1:c.253dup XP_005271226.1:p.Ala85GlyfsTer11
XM_005271170.1:c.253dup XP_005271227.1:p.Ala85GlyfsTer11
XM_011542080.1:c.406dup XP_011540382.1:p.Ala136GlyfsTer11
XM_011542081.1:c.301dup XP_011540383.1:p.Ala101GlyfsTer11
NM_000374.5:c.469dup MANE Select NP_000365.3:p.Ala157GlyfsTer11
NR_158184.1:n.550dup
NR_158185.1:n.500dup
NR_036510.2:n.531dup