Canonical Allele Identifier: CA2473585840

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015354G= , CM000663.2:g.45015354G=	GRCh38
NC_000001.10:g.45481026G= , CM000663.1:g.45481026G=	GRCh37
NC_000001.9:g.45253613G=	NCBI36
NG_007122.2:g.8197G=
NG_033058.1:g.1002C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.960G= MANE Select	ENSP00000246337.4:p.Leu320=
ENST00000491773.6:c.717G=	ENSP00000498551.1:p.Leu239=
ENST00000636293.1:c.822G=	ENSP00000490710.1:p.Leu274=
ENST00000636836.1:c.893G=	ENSP00000490594.1:p.Trp298=
ENST00000651476.1:c.855G=	ENSP00000498668.1:p.Leu285=
ENST00000652165.1:c.717G=	ENSP00000498295.1:p.Leu239=
ENST00000652287.1:c.897G=	ENSP00000498413.1:p.Leu299=
ENST00000652514.1:c.921G=	ENSP00000498635.1:n.921G=
ENST00000246337.8:c.960G=	ENSP00000246337.4:p.Leu320=
ENST00000465678.1:n.705G=
ENST00000466193.1:n.486G=
ENST00000472254.1:n.713G=
ENST00000494399.5:n.1627G=
NM_000374.4:c.960G=	NP_000365.3:p.Leu320=
NR_036510.1:n.1143G=
XM_005271169.1:c.744G=	XP_005271226.1:p.Leu248=
XM_005271170.1:c.744G=	XP_005271227.1:p.Leu248=
XM_011542080.1:c.897G=	XP_011540382.1:p.Leu299=
XM_011542081.1:c.792G=	XP_011540383.1:p.Leu264=
NM_000374.5:c.960G= MANE Select	NP_000365.3:p.Leu320=
NR_158184.1:n.1041G=
NR_158185.1:n.991G=
NR_036510.2:n.1022G=