Canonical Allele Identifier: CA1141580774

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013933G= , CM000663.2:g.45013933G=	GRCh38
NC_000001.10:g.45479605G= , CM000663.1:g.45479605G=	GRCh37
NC_000001.9:g.45252192G=	NCBI36
NG_007122.2:g.6776G=
NG_033058.1:g.2423C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.499G= MANE Select	ENSP00000246337.4:p.Glu167=
ENST00000434478.6:c.553G=	ENSP00000404489.2:p.Glu185=
ENST00000491773.6:c.394G=	ENSP00000498551.1:p.Glu132=
ENST00000636293.1:c.499G=	ENSP00000490710.1:p.Glu167=
ENST00000636836.1:c.499G=	ENSP00000490594.1:p.Glu167=
ENST00000651476.1:c.394G=	ENSP00000498668.1:p.Glu132=
ENST00000652165.1:c.394G=	ENSP00000498295.1:p.Glu132=
ENST00000652287.1:c.436G=	ENSP00000498413.1:p.Glu146=
ENST00000652514.1:c.460G=	ENSP00000498635.1:n.460G=
ENST00000246337.8:c.499G=	ENSP00000246337.4:p.Glu167=
ENST00000428106.1:c.454+142G=
ENST00000434478.5:c.436G=	ENSP00000404489.1:p.Glu146=
ENST00000460334.5:n.526G=
ENST00000460906.5:n.633G=
ENST00000462688.5:n.626G=
ENST00000469548.5:n.695G=
ENST00000473012.1:n.546G=
ENST00000478467.5:n.502G=
ENST00000486699.5:n.619G=
ENST00000490385.5:n.573G=
ENST00000491300.5:n.618G=
ENST00000491773.5:n.653G=
ENST00000494399.5:n.639G=
ENST00000496439.1:n.595G=
NM_000374.4:c.499G=	NP_000365.3:p.Glu167=
NR_036510.1:n.682G=
XM_005271169.1:c.283G=	XP_005271226.1:p.Glu95=
XM_005271170.1:c.283G=	XP_005271227.1:p.Glu95=
XM_011542080.1:c.436G=	XP_011540382.1:p.Glu146=
XM_011542081.1:c.331G=	XP_011540383.1:p.Glu111=
NM_000374.5:c.499G= MANE Select	NP_000365.3:p.Glu167=
NR_158184.1:n.580G=
NR_158185.1:n.530G=
NR_036510.2:n.561G=