Canonical Allele Identifier: CA2473585499

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013956G= , CM000663.2:g.45013956G=	GRCh38
NC_000001.10:g.45479628G= , CM000663.1:g.45479628G=	GRCh37
NC_000001.9:g.45252215G=	NCBI36
NG_007122.2:g.6799G=
NG_033058.1:g.2400C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.522G= MANE Select	ENSP00000246337.4:p.Met174=
ENST00000434478.6:c.576G=	ENSP00000404489.2:p.Met192=
ENST00000491773.6:c.417G=	ENSP00000498551.1:p.Met139=
ENST00000636293.1:c.522G=	ENSP00000490710.1:p.Met174=
ENST00000636836.1:c.522G=	ENSP00000490594.1:p.Met174=
ENST00000651476.1:c.417G=	ENSP00000498668.1:p.Met139=
ENST00000652165.1:c.417G=	ENSP00000498295.1:p.Met139=
ENST00000652287.1:c.459G=	ENSP00000498413.1:p.Met153=
ENST00000652514.1:c.483G=	ENSP00000498635.1:n.483G=
ENST00000246337.8:c.522G=	ENSP00000246337.4:p.Met174=
ENST00000428106.1:c.454+165G=
ENST00000434478.5:c.459G=	ENSP00000404489.1:p.Met153=
ENST00000460334.5:n.549G=
ENST00000460906.5:n.656G=
ENST00000462688.5:n.649G=
ENST00000469548.5:n.718G=
ENST00000473012.1:n.569G=
ENST00000478467.5:n.525G=
ENST00000486699.5:n.642G=
ENST00000490385.5:n.596G=
ENST00000491300.5:n.641G=
ENST00000491773.5:n.676G=
ENST00000494399.5:n.662G=
ENST00000496439.1:n.618G=
NM_000374.4:c.522G=	NP_000365.3:p.Met174=
NR_036510.1:n.705G=
XM_005271169.1:c.306G=	XP_005271226.1:p.Met102=
XM_005271170.1:c.306G=	XP_005271227.1:p.Met102=
XM_011542080.1:c.459G=	XP_011540382.1:p.Met153=
XM_011542081.1:c.354G=	XP_011540383.1:p.Met118=
NM_000374.5:c.522G= MANE Select	NP_000365.3:p.Met174=
NR_158184.1:n.603G=
NR_158185.1:n.553G=
NR_036510.2:n.584G=