Canonical Allele Identifier: CA1144228787

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013663C= , CM000663.2:g.45013663C=	GRCh38
NC_000001.10:g.45479335C= , CM000663.1:g.45479335C=	GRCh37
NC_000001.9:g.45251922C=	NCBI36
NG_007122.2:g.6506C=
NG_033058.1:g.2693G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.346C= MANE Select	ENSP00000246337.4:p.Gln116=
ENST00000434478.6:c.400C=	ENSP00000404489.2:p.Gln134=
ENST00000491773.6:c.241C=	ENSP00000498551.1:p.Gln81=
ENST00000636293.1:c.346C=	ENSP00000490710.1:p.Gln116=
ENST00000636836.1:c.346C=	ENSP00000490594.1:p.Gln116=
ENST00000650713.1:c.241C=	ENSP00000499014.1:p.Gln81=
ENST00000651476.1:c.241C=	ENSP00000498668.1:p.Gln81=
ENST00000652165.1:c.241C=	ENSP00000498295.1:p.Gln81=
ENST00000652287.1:c.283C=	ENSP00000498413.1:p.Gln95=
ENST00000652514.1:c.307C=	ENSP00000498635.1:n.307C=
ENST00000246337.8:c.346C=	ENSP00000246337.4:p.Gln116=
ENST00000428106.1:c.326C=
ENST00000434478.5:c.283C=	ENSP00000404489.1:p.Gln95=
ENST00000460334.5:n.373C=
ENST00000460906.5:n.363C=
ENST00000462688.5:n.473C=
ENST00000463092.5:n.742C=
ENST00000469548.5:n.542C=
ENST00000473012.1:n.393C=
ENST00000478467.5:n.349C=
ENST00000486699.5:n.466C=
ENST00000490385.5:n.420C=
ENST00000491300.5:n.465C=
ENST00000491773.5:n.500C=
ENST00000494399.5:n.486C=
ENST00000496439.1:n.325C=
NM_000374.4:c.346C=	NP_000365.3:p.Gln116=
NR_036510.1:n.529C=
XM_005271169.1:c.130C=	XP_005271226.1:p.Gln44=
XM_005271170.1:c.130C=	XP_005271227.1:p.Gln44=
XM_011542080.1:c.283C=	XP_011540382.1:p.Gln95=
XM_011542081.1:c.178C=	XP_011540383.1:p.Gln60=
NM_000374.5:c.346C= MANE Select	NP_000365.3:p.Gln116=
NR_158184.1:n.427C=
NR_158185.1:n.377C=
NR_036510.2:n.408C=