Canonical Allele Identifier: CA1141580777
Gene: UROD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45014835C= , CM000663.2:g.45014835C= GRCh38
NC_000001.10:g.45480507C= , CM000663.1:g.45480507C= GRCh37
NC_000001.9:g.45253094C= NCBI36
NG_007122.2:g.7678C=
NG_033058.1:g.1521G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000246337.9:c.874C= MANE Select ENSP00000246337.4:p.Arg292=
ENST00000491773.6:c.631C= ENSP00000498551.1:p.Arg211=
ENST00000636293.1:c.736C= ENSP00000490710.1:p.Arg246=
ENST00000636836.1:c.874C= ENSP00000490594.1:p.Arg292=
ENST00000651476.1:c.769C= ENSP00000498668.1:p.Arg257=
ENST00000652165.1:c.631C= ENSP00000498295.1:p.Arg211=
ENST00000652287.1:c.811C= ENSP00000498413.1:p.Arg271=
ENST00000652514.1:c.835C= ENSP00000498635.1:n.835C=
ENST00000246337.8:c.874C= ENSP00000246337.4:p.Arg292=
ENST00000465678.1:n.289C=
ENST00000466193.1:n.297C=
ENST00000472254.1:n.627C=
ENST00000494399.5:n.1541C=
NM_000374.4:c.874C= NP_000365.3:p.Arg292=
NR_036510.1:n.1057C=
XM_005271169.1:c.658C= XP_005271226.1:p.Arg220=
XM_005271170.1:c.658C= XP_005271227.1:p.Arg220=
XM_011542080.1:c.811C= XP_011540382.1:p.Arg271=
XM_011542081.1:c.706C= XP_011540383.1:p.Arg236=
NM_000374.5:c.874C= MANE Select NP_000365.3:p.Arg292=
NR_158184.1:n.955C=
NR_158185.1:n.905C=
NR_036510.2:n.936C=