Canonical Allele Identifier: CA825250

Gene: UROD

Linked Data

• dbSNP Id: rs765926268
• ExAC: 1:45479459 C / T
• gnomAD v2: 1-45479459-C-T
• gnomAD v4: 1-45013787-C-T
• MyVariant Identifiers: chr1:g.45479459C>T (hg19) ; chr1:g.45013787C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013787C>T , CM000663.2:g.45013787C>T	GRCh38
NC_000001.10:g.45479459C>T , CM000663.1:g.45479459C>T	GRCh37
NC_000001.9:g.45252046C>T	NCBI36
NG_007122.2:g.6630C>T
NG_033058.1:g.2569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.470C>T MANE Select	ENSP00000246337.4:p.Ala157Val
ENST00000434478.6:c.524C>T	ENSP00000404489.2:p.Ala175Val
ENST00000491773.6:c.365C>T	ENSP00000498551.1:p.Ala122Val
ENST00000636293.1:c.470C>T	ENSP00000490710.1:p.Ala157Val
ENST00000636836.1:c.470C>T	ENSP00000490594.1:p.Ala157Val
ENST00000651476.1:c.365C>T	ENSP00000498668.1:p.Ala122Val
ENST00000652165.1:c.365C>T	ENSP00000498295.1:p.Ala122Val
ENST00000652287.1:c.407C>T	ENSP00000498413.1:p.Ala136Val
ENST00000652514.1:c.431C>T	ENSP00000498635.1:n.431C>T
ENST00000246337.8:c.470C>T	ENSP00000246337.4:p.Ala157Val
ENST00000428106.1:c.450C>T
ENST00000434478.5:c.407C>T	ENSP00000404489.1:p.Ala136Val
ENST00000460334.5:n.497C>T
ENST00000460906.5:n.487C>T
ENST00000462688.5:n.597C>T
ENST00000463092.5:n.866C>T
ENST00000469548.5:n.666C>T
ENST00000473012.1:n.517C>T
ENST00000478467.5:n.473C>T
ENST00000486699.5:n.590C>T
ENST00000490385.5:n.544C>T
ENST00000491300.5:n.589C>T
ENST00000491773.5:n.624C>T
ENST00000494399.5:n.610C>T
ENST00000496439.1:n.449C>T
NM_000374.4:c.470C>T	NP_000365.3:p.Ala157Val
NR_036510.1:n.653C>T
XM_005271169.1:c.254C>T	XP_005271226.1:p.Ala85Val
XM_005271170.1:c.254C>T	XP_005271227.1:p.Ala85Val
XM_011542080.1:c.407C>T	XP_011540382.1:p.Ala136Val
XM_011542081.1:c.302C>T	XP_011540383.1:p.Ala101Val
NM_000374.5:c.470C>T MANE Select	NP_000365.3:p.Ala157Val
NR_158184.1:n.551C>T
NR_158185.1:n.501C>T
NR_036510.2:n.532C>T