Canonical Allele Identifier: CA1142022432
Gene: UROD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45013850G= , CM000663.2:g.45013850G= GRCh38
NC_000001.10:g.45479522G= , CM000663.1:g.45479522G= GRCh37
NC_000001.9:g.45252109G= NCBI36
NG_007122.2:g.6693G=
NG_033058.1:g.2506C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000246337.9:c.475-59G= MANE Select ENSP00000246337.4:n.475-59G=
ENST00000434478.6:c.529-59G= ENSP00000404489.2:n.529-59G=
ENST00000491773.6:c.370-59G= ENSP00000498551.1:n.370-59G=
ENST00000636293.1:c.475-59G= ENSP00000490710.1:n.475-59G=
ENST00000636836.1:c.475-59G= ENSP00000490594.1:n.475-59G=
ENST00000651476.1:c.370-59G= ENSP00000498668.1:n.370-59G=
ENST00000652165.1:c.370-59G= ENSP00000498295.1:n.370-59G=
ENST00000652287.1:c.412-59G= ENSP00000498413.1:n.412-59G=
ENST00000652514.1:c.436-59G= ENSP00000498635.1:n.436-59G=
ENST00000246337.8:c.475-59G= ENSP00000246337.4:n.475-59G=
ENST00000428106.1:c.454+59G=
ENST00000434478.5:c.412-59G= ENSP00000404489.1:n.412-59G=
ENST00000460334.5:n.502-59G=
ENST00000460906.5:n.550G=
ENST00000462688.5:n.602-59G=
ENST00000463092.5:n.929G=
ENST00000469548.5:n.671-59G=
ENST00000473012.1:n.522-59G=
ENST00000478467.5:n.478-59G=
ENST00000486699.5:n.595-59G=
ENST00000490385.5:n.549-59G=
ENST00000491300.5:n.594-59G=
ENST00000491773.5:n.629-59G=
ENST00000494399.5:n.615-59G=
ENST00000496439.1:n.512G=
NM_000374.4:c.475-59G= NP_000365.3:n.475-59G=
NR_036510.1:n.658-59G=
XM_005271169.1:c.259-59G= XP_005271226.1:n.259-59G=
XM_005271170.1:c.259-59G= XP_005271227.1:n.259-59G=
XM_011542080.1:c.412-59G= XP_011540382.1:n.412-59G=
XM_011542081.1:c.307-59G= XP_011540383.1:n.307-59G=
NM_000374.5:c.475-59G= MANE Select NP_000365.3:n.475-59G=
NR_158184.1:n.556-59G=
NR_158185.1:n.506-59G=
NR_036510.2:n.537-59G=