Canonical Allele Identifier: CA2743417924

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013871T>C , CM000663.2:g.45013871T>C	GRCh38
NC_000001.10:g.45479543T>C , CM000663.1:g.45479543T>C	GRCh37
NC_000001.9:g.45252130T>C	NCBI36
NG_007122.2:g.6714T>C
NG_033058.1:g.2485A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.475-38T>C MANE Select	ENSP00000246337.4:n.475-38T>C
ENST00000434478.6:c.529-38T>C	ENSP00000404489.2:n.529-38T>C
ENST00000491773.6:c.370-38T>C	ENSP00000498551.1:n.370-38T>C
ENST00000636293.1:c.475-38T>C	ENSP00000490710.1:n.475-38T>C
ENST00000636836.1:c.475-38T>C	ENSP00000490594.1:n.475-38T>C
ENST00000651476.1:c.370-38T>C	ENSP00000498668.1:n.370-38T>C
ENST00000652165.1:c.370-38T>C	ENSP00000498295.1:n.370-38T>C
ENST00000652287.1:c.412-38T>C	ENSP00000498413.1:n.412-38T>C
ENST00000652514.1:c.436-38T>C	ENSP00000498635.1:n.436-38T>C
ENST00000246337.8:c.475-38T>C	ENSP00000246337.4:n.475-38T>C
ENST00000428106.1:c.454+80T>C
ENST00000434478.5:c.412-38T>C	ENSP00000404489.1:n.412-38T>C
ENST00000460334.5:n.502-38T>C
ENST00000460906.5:n.571T>C
ENST00000462688.5:n.602-38T>C
ENST00000463092.5:n.950T>C
ENST00000469548.5:n.671-38T>C
ENST00000473012.1:n.522-38T>C
ENST00000478467.5:n.478-38T>C
ENST00000486699.5:n.595-38T>C
ENST00000490385.5:n.549-38T>C
ENST00000491300.5:n.594-38T>C
ENST00000491773.5:n.629-38T>C
ENST00000494399.5:n.615-38T>C
ENST00000496439.1:n.533T>C
NM_000374.4:c.475-38T>C	NP_000365.3:n.475-38T>C
NR_036510.1:n.658-38T>C
XM_005271169.1:c.259-38T>C	XP_005271226.1:n.259-38T>C
XM_005271170.1:c.259-38T>C	XP_005271227.1:n.259-38T>C
XM_011542080.1:c.412-38T>C	XP_011540382.1:n.412-38T>C
XM_011542081.1:c.307-38T>C	XP_011540383.1:n.307-38T>C
NM_000374.5:c.475-38T>C MANE Select	NP_000365.3:n.475-38T>C
NR_158184.1:n.556-38T>C
NR_158185.1:n.506-38T>C
NR_036510.2:n.537-38T>C