Canonical Allele Identifier: CA21795904

Gene: UROD

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45014012G>A , CM000663.2:g.45014012G>A	GRCh38
NC_000001.10:g.45479684G>A , CM000663.1:g.45479684G>A	GRCh37
NC_000001.9:g.45252271G>A	NCBI36
NG_007122.2:g.6855G>A
NG_033058.1:g.2344C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.578G>A MANE Select	ENSP00000246337.4:p.Arg193His
ENST00000434478.6:c.632G>A	ENSP00000404489.2:p.Arg211His
ENST00000491773.6:c.473G>A	ENSP00000498551.1:p.Arg158His
ENST00000636293.1:c.578G>A	ENSP00000490710.1:p.Arg193His
ENST00000636836.1:c.578G>A	ENSP00000490594.1:p.Arg193His
ENST00000651476.1:c.473G>A	ENSP00000498668.1:p.Arg158His
ENST00000652165.1:c.473G>A	ENSP00000498295.1:p.Arg158His
ENST00000652287.1:c.515G>A	ENSP00000498413.1:p.Arg172His
ENST00000652514.1:c.539G>A	ENSP00000498635.1:n.539G>A
ENST00000246337.8:c.578G>A	ENSP00000246337.4:p.Arg193His
ENST00000428106.1:c.454+221G>A
ENST00000434478.5:c.515G>A	ENSP00000404489.1:p.Arg172His
ENST00000460334.5:n.605G>A
ENST00000460906.5:n.712G>A
ENST00000462688.5:n.705G>A
ENST00000469548.5:n.774G>A
ENST00000473012.1:n.625G>A
ENST00000478467.5:n.581G>A
ENST00000486699.5:n.698G>A
ENST00000490385.5:n.652G>A
ENST00000491300.5:n.697G>A
ENST00000494399.5:n.718G>A
ENST00000496439.1:n.674G>A
NM_000374.4:c.578G>A	NP_000365.3:p.Arg193His
NR_036510.1:n.761G>A
XM_005271169.1:c.362G>A	XP_005271226.1:p.Arg121His
XM_005271170.1:c.362G>A	XP_005271227.1:p.Arg121His
XM_011542080.1:c.515G>A	XP_011540382.1:p.Arg172His
XM_011542081.1:c.410G>A	XP_011540383.1:p.Arg137His
NM_000374.5:c.578G>A MANE Select	NP_000365.3:p.Arg193His
NR_158184.1:n.659G>A
NR_158185.1:n.609G>A
NR_036510.2:n.640G>A