Canonical Allele Identifier: CA2473585486

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013940G= , CM000663.2:g.45013940G=	GRCh38
NC_000001.10:g.45479612G= , CM000663.1:g.45479612G=	GRCh37
NC_000001.9:g.45252199G=	NCBI36
NG_007122.2:g.6783G=
NG_033058.1:g.2416C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.506G= MANE Select	ENSP00000246337.4:p.Gly169=
ENST00000434478.6:c.560G=	ENSP00000404489.2:p.Gly187=
ENST00000491773.6:c.401G=	ENSP00000498551.1:p.Gly134=
ENST00000636293.1:c.506G=	ENSP00000490710.1:p.Gly169=
ENST00000636836.1:c.506G=	ENSP00000490594.1:p.Gly169=
ENST00000651476.1:c.401G=	ENSP00000498668.1:p.Gly134=
ENST00000652165.1:c.401G=	ENSP00000498295.1:p.Gly134=
ENST00000652287.1:c.443G=	ENSP00000498413.1:p.Gly148=
ENST00000652514.1:c.467G=	ENSP00000498635.1:n.467G=
ENST00000246337.8:c.506G=	ENSP00000246337.4:p.Gly169=
ENST00000428106.1:c.454+149G=
ENST00000434478.5:c.443G=	ENSP00000404489.1:p.Gly148=
ENST00000460334.5:n.533G=
ENST00000460906.5:n.640G=
ENST00000462688.5:n.633G=
ENST00000469548.5:n.702G=
ENST00000473012.1:n.553G=
ENST00000478467.5:n.509G=
ENST00000486699.5:n.626G=
ENST00000490385.5:n.580G=
ENST00000491300.5:n.625G=
ENST00000491773.5:n.660G=
ENST00000494399.5:n.646G=
ENST00000496439.1:n.602G=
NM_000374.4:c.506G=	NP_000365.3:p.Gly169=
NR_036510.1:n.689G=
XM_005271169.1:c.290G=	XP_005271226.1:p.Gly97=
XM_005271170.1:c.290G=	XP_005271227.1:p.Gly97=
XM_011542080.1:c.443G=	XP_011540382.1:p.Gly148=
XM_011542081.1:c.338G=	XP_011540383.1:p.Gly113=
NM_000374.5:c.506G= MANE Select	NP_000365.3:p.Gly169=
NR_158184.1:n.587G=
NR_158185.1:n.537G=
NR_036510.2:n.568G=