Canonical Allele Identifier: CA417698709

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481062C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015390C>A , CM000663.2:g.45015390C>A	GRCh38
NC_000001.10:g.45481062C>A , CM000663.1:g.45481062C>A	GRCh37
NC_000001.9:g.45253649C>A	NCBI36
NG_007122.2:g.8233C>A
NG_033058.1:g.966G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.996C>A MANE Select	ENSP00000246337.4:p.Arg332=
ENST00000491773.6:c.753C>A	ENSP00000498551.1:p.Arg251=
ENST00000636293.1:c.858C>A	ENSP00000490710.1:p.Arg286=
ENST00000636836.1:c.*32C>A	ENSP00000490594.1:n.*32C>A
ENST00000651476.1:c.891C>A	ENSP00000498668.1:p.Arg297=
ENST00000652165.1:c.753C>A	ENSP00000498295.1:p.Arg251=
ENST00000652287.1:c.933C>A	ENSP00000498413.1:p.Arg311=
ENST00000652514.1:c.957C>A	ENSP00000498635.1:n.957C>A
ENST00000246337.8:c.996C>A	ENSP00000246337.4:p.Arg332=
ENST00000465678.1:n.741C>A
ENST00000466193.1:n.522C>A
ENST00000472254.1:n.749C>A
ENST00000494399.5:n.1663C>A
NM_000374.4:c.996C>A	NP_000365.3:p.Arg332=
NR_036510.1:n.1179C>A
XM_005271169.1:c.780C>A	XP_005271226.1:p.Arg260=
XM_005271170.1:c.780C>A	XP_005271227.1:p.Arg260=
XM_011542080.1:c.933C>A	XP_011540382.1:p.Arg311=
XM_011542081.1:c.828C>A	XP_011540383.1:p.Arg276=
NM_000374.5:c.996C>A MANE Select	NP_000365.3:p.Arg332=
NR_158184.1:n.1077C>A
NR_158185.1:n.1027C>A
NR_036510.2:n.1058C>A