Canonical Allele Identifier: CA1139921549

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013767G= , CM000663.2:g.45013767G=	GRCh38
NC_000001.10:g.45479439G= , CM000663.1:g.45479439G=	GRCh37
NC_000001.9:g.45252026G=	NCBI36
NG_007122.2:g.6610G=
NG_033058.1:g.2589C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.450G= MANE Select	ENSP00000246337.4:p.Pro150=
ENST00000434478.6:c.504G=	ENSP00000404489.2:p.Pro168=
ENST00000491773.6:c.345G=	ENSP00000498551.1:p.Pro115=
ENST00000636293.1:c.450G=	ENSP00000490710.1:p.Pro150=
ENST00000636836.1:c.450G=	ENSP00000490594.1:p.Pro150=
ENST00000651476.1:c.345G=	ENSP00000498668.1:p.Pro115=
ENST00000652165.1:c.345G=	ENSP00000498295.1:p.Pro115=
ENST00000652287.1:c.387G=	ENSP00000498413.1:p.Pro129=
ENST00000652514.1:c.411G=	ENSP00000498635.1:n.411G=
ENST00000246337.8:c.450G=	ENSP00000246337.4:p.Pro150=
ENST00000428106.1:c.430G=
ENST00000434478.5:c.387G=	ENSP00000404489.1:p.Pro129=
ENST00000460334.5:n.477G=
ENST00000460906.5:n.467G=
ENST00000462688.5:n.577G=
ENST00000463092.5:n.846G=
ENST00000469548.5:n.646G=
ENST00000473012.1:n.497G=
ENST00000478467.5:n.453G=
ENST00000486699.5:n.570G=
ENST00000490385.5:n.524G=
ENST00000491300.5:n.569G=
ENST00000491773.5:n.604G=
ENST00000494399.5:n.590G=
ENST00000496439.1:n.429G=
NM_000374.4:c.450G=	NP_000365.3:p.Pro150=
NR_036510.1:n.633G=
XM_005271169.1:c.234G=	XP_005271226.1:p.Pro78=
XM_005271170.1:c.234G=	XP_005271227.1:p.Pro78=
XM_011542080.1:c.387G=	XP_011540382.1:p.Pro129=
XM_011542081.1:c.282G=	XP_011540383.1:p.Pro94=
NM_000374.5:c.450G= MANE Select	NP_000365.3:p.Pro150=
NR_158184.1:n.531G=
NR_158185.1:n.481G=
NR_036510.2:n.512G=