Canonical Allele Identifier: CA2473585489

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013942G= , CM000663.2:g.45013942G=	GRCh38
NC_000001.10:g.45479614G= , CM000663.1:g.45479614G=	GRCh37
NC_000001.9:g.45252201G=	NCBI36
NG_007122.2:g.6785G=
NG_033058.1:g.2414C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.508G= MANE Select	ENSP00000246337.4:p.Gly170=
ENST00000434478.6:c.562G=	ENSP00000404489.2:p.Gly188=
ENST00000491773.6:c.403G=	ENSP00000498551.1:p.Gly135=
ENST00000636293.1:c.508G=	ENSP00000490710.1:p.Gly170=
ENST00000636836.1:c.508G=	ENSP00000490594.1:p.Gly170=
ENST00000651476.1:c.403G=	ENSP00000498668.1:p.Gly135=
ENST00000652165.1:c.403G=	ENSP00000498295.1:p.Gly135=
ENST00000652287.1:c.445G=	ENSP00000498413.1:p.Gly149=
ENST00000652514.1:c.469G=	ENSP00000498635.1:n.469G=
ENST00000246337.8:c.508G=	ENSP00000246337.4:p.Gly170=
ENST00000428106.1:c.454+151G=
ENST00000434478.5:c.445G=	ENSP00000404489.1:p.Gly149=
ENST00000460334.5:n.535G=
ENST00000460906.5:n.642G=
ENST00000462688.5:n.635G=
ENST00000469548.5:n.704G=
ENST00000473012.1:n.555G=
ENST00000478467.5:n.511G=
ENST00000486699.5:n.628G=
ENST00000490385.5:n.582G=
ENST00000491300.5:n.627G=
ENST00000491773.5:n.662G=
ENST00000494399.5:n.648G=
ENST00000496439.1:n.604G=
NM_000374.4:c.508G=	NP_000365.3:p.Gly170=
NR_036510.1:n.691G=
XM_005271169.1:c.292G=	XP_005271226.1:p.Gly98=
XM_005271170.1:c.292G=	XP_005271227.1:p.Gly98=
XM_011542080.1:c.445G=	XP_011540382.1:p.Gly149=
XM_011542081.1:c.340G=	XP_011540383.1:p.Gly114=
NM_000374.5:c.508G= MANE Select	NP_000365.3:p.Gly170=
NR_158184.1:n.589G=
NR_158185.1:n.539G=
NR_036510.2:n.570G=