Canonical Allele Identifier: CA3071712137

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013786G= , CM000663.2:g.45013786G=	GRCh38
NC_000001.10:g.45479458G= , CM000663.1:g.45479458G=	GRCh37
NC_000001.9:g.45252045G=	NCBI36
NG_007122.2:g.6629G=
NG_033058.1:g.2570C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.469G= MANE Select	ENSP00000246337.4:p.Ala157=
ENST00000434478.6:c.523G=	ENSP00000404489.2:p.Ala175=
ENST00000491773.6:c.364G=	ENSP00000498551.1:p.Ala122=
ENST00000636293.1:c.469G=	ENSP00000490710.1:p.Ala157=
ENST00000636836.1:c.469G=	ENSP00000490594.1:p.Ala157=
ENST00000651476.1:c.364G=	ENSP00000498668.1:p.Ala122=
ENST00000652165.1:c.364G=	ENSP00000498295.1:p.Ala122=
ENST00000652287.1:c.406G=	ENSP00000498413.1:p.Ala136=
ENST00000652514.1:c.430G=	ENSP00000498635.1:n.430G=
ENST00000246337.8:c.469G=	ENSP00000246337.4:p.Ala157=
ENST00000428106.1:c.449G=
ENST00000434478.5:c.406G=	ENSP00000404489.1:p.Ala136=
ENST00000460334.5:n.496G=
ENST00000460906.5:n.486G=
ENST00000462688.5:n.596G=
ENST00000463092.5:n.865G=
ENST00000469548.5:n.665G=
ENST00000473012.1:n.516G=
ENST00000478467.5:n.472G=
ENST00000486699.5:n.589G=
ENST00000490385.5:n.543G=
ENST00000491300.5:n.588G=
ENST00000491773.5:n.623G=
ENST00000494399.5:n.609G=
ENST00000496439.1:n.448G=
NM_000374.4:c.469G=	NP_000365.3:p.Ala157=
NR_036510.1:n.652G=
XM_005271169.1:c.253G=	XP_005271226.1:p.Ala85=
XM_005271170.1:c.253G=	XP_005271227.1:p.Ala85=
XM_011542080.1:c.406G=	XP_011540382.1:p.Ala136=
XM_011542081.1:c.301G=	XP_011540383.1:p.Ala101=
NM_000374.5:c.469G= MANE Select	NP_000365.3:p.Ala157=
NR_158184.1:n.550G=
NR_158185.1:n.500G=
NR_036510.2:n.531G=