Canonical Allele Identifier: CA340118239

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45479622C>A (hg19) ; chr1:g.45013950C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013950C>A , CM000663.2:g.45013950C>A	GRCh38
NC_000001.10:g.45479622C>A , CM000663.1:g.45479622C>A	GRCh37
NC_000001.9:g.45252209C>A	NCBI36
NG_007122.2:g.6793C>A
NG_033058.1:g.2406G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.516C>A MANE Select	ENSP00000246337.4:p.Ser172Arg
ENST00000434478.6:c.570C>A	ENSP00000404489.2:p.Ser190Arg
ENST00000491773.6:c.411C>A	ENSP00000498551.1:p.Ser137Arg
ENST00000636293.1:c.516C>A	ENSP00000490710.1:p.Ser172Arg
ENST00000636836.1:c.516C>A	ENSP00000490594.1:p.Ser172Arg
ENST00000651476.1:c.411C>A	ENSP00000498668.1:p.Ser137Arg
ENST00000652165.1:c.411C>A	ENSP00000498295.1:p.Ser137Arg
ENST00000652287.1:c.453C>A	ENSP00000498413.1:p.Ser151Arg
ENST00000652514.1:c.477C>A	ENSP00000498635.1:n.477C>A
ENST00000246337.8:c.516C>A	ENSP00000246337.4:p.Ser172Arg
ENST00000428106.1:c.454+159C>A
ENST00000434478.5:c.453C>A	ENSP00000404489.1:p.Ser151Arg
ENST00000460334.5:n.543C>A
ENST00000460906.5:n.650C>A
ENST00000462688.5:n.643C>A
ENST00000469548.5:n.712C>A
ENST00000473012.1:n.563C>A
ENST00000478467.5:n.519C>A
ENST00000486699.5:n.636C>A
ENST00000490385.5:n.590C>A
ENST00000491300.5:n.635C>A
ENST00000491773.5:n.670C>A
ENST00000494399.5:n.656C>A
ENST00000496439.1:n.612C>A
NM_000374.4:c.516C>A	NP_000365.3:p.Ser172Arg
NR_036510.1:n.699C>A
XM_005271169.1:c.300C>A	XP_005271226.1:p.Ser100Arg
XM_005271170.1:c.300C>A	XP_005271227.1:p.Ser100Arg
XM_011542080.1:c.453C>A	XP_011540382.1:p.Ser151Arg
XM_011542081.1:c.348C>A	XP_011540383.1:p.Ser116Arg
NM_000374.5:c.516C>A MANE Select	NP_000365.3:p.Ser172Arg
NR_158184.1:n.597C>A
NR_158185.1:n.547C>A
NR_036510.2:n.578C>A