Canonical Allele Identifier: CA1141580780

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015006G= , CM000663.2:g.45015006G=	GRCh38
NC_000001.10:g.45480678G= , CM000663.1:g.45480678G=	GRCh37
NC_000001.9:g.45253265G=	NCBI36
NG_007122.2:g.7849G=
NG_033058.1:g.1350C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.942G= MANE Select	ENSP00000246337.4:p.Glu314=
ENST00000491773.6:c.699G=	ENSP00000498551.1:p.Glu233=
ENST00000636293.1:c.804G=	ENSP00000490710.1:p.Glu268=
ENST00000636836.1:c.875+170G=	ENSP00000490594.1:n.875+170G=
ENST00000651476.1:c.837G=	ENSP00000498668.1:p.Glu279=
ENST00000652165.1:c.699G=	ENSP00000498295.1:p.Glu233=
ENST00000652287.1:c.879G=	ENSP00000498413.1:p.Glu293=
ENST00000652514.1:c.903G=	ENSP00000498635.1:n.903G=
ENST00000246337.8:c.942G=	ENSP00000246337.4:p.Glu314=
ENST00000465678.1:n.357G=
ENST00000466193.1:n.468G=
ENST00000472254.1:n.695G=
ENST00000494399.5:n.1609G=
NM_000374.4:c.942G=	NP_000365.3:p.Glu314=
NR_036510.1:n.1125G=
XM_005271169.1:c.726G=	XP_005271226.1:p.Glu242=
XM_005271170.1:c.726G=	XP_005271227.1:p.Glu242=
XM_011542080.1:c.879G=	XP_011540382.1:p.Glu293=
XM_011542081.1:c.774G=	XP_011540383.1:p.Glu258=
NM_000374.5:c.942G= MANE Select	NP_000365.3:p.Glu314=
NR_158184.1:n.1023G=
NR_158185.1:n.973G=
NR_036510.2:n.1004G=