Canonical Allele Identifier: CA340118208

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45479607G>T (hg19) ; chr1:g.45013935G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013935G>T , CM000663.2:g.45013935G>T	GRCh38
NC_000001.10:g.45479607G>T , CM000663.1:g.45479607G>T	GRCh37
NC_000001.9:g.45252194G>T	NCBI36
NG_007122.2:g.6778G>T
NG_033058.1:g.2421C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.501G>T MANE Select	ENSP00000246337.4:p.Glu167Asp
ENST00000434478.6:c.555G>T	ENSP00000404489.2:p.Glu185Asp
ENST00000491773.6:c.396G>T	ENSP00000498551.1:p.Glu132Asp
ENST00000636293.1:c.501G>T	ENSP00000490710.1:p.Glu167Asp
ENST00000636836.1:c.501G>T	ENSP00000490594.1:p.Glu167Asp
ENST00000651476.1:c.396G>T	ENSP00000498668.1:p.Glu132Asp
ENST00000652165.1:c.396G>T	ENSP00000498295.1:p.Glu132Asp
ENST00000652287.1:c.438G>T	ENSP00000498413.1:p.Glu146Asp
ENST00000652514.1:c.462G>T	ENSP00000498635.1:n.462G>T
ENST00000246337.8:c.501G>T	ENSP00000246337.4:p.Glu167Asp
ENST00000428106.1:c.454+144G>T
ENST00000434478.5:c.438G>T	ENSP00000404489.1:p.Glu146Asp
ENST00000460334.5:n.528G>T
ENST00000460906.5:n.635G>T
ENST00000462688.5:n.628G>T
ENST00000469548.5:n.697G>T
ENST00000473012.1:n.548G>T
ENST00000478467.5:n.504G>T
ENST00000486699.5:n.621G>T
ENST00000490385.5:n.575G>T
ENST00000491300.5:n.620G>T
ENST00000491773.5:n.655G>T
ENST00000494399.5:n.641G>T
ENST00000496439.1:n.597G>T
NM_000374.4:c.501G>T	NP_000365.3:p.Glu167Asp
NR_036510.1:n.684G>T
XM_005271169.1:c.285G>T	XP_005271226.1:p.Glu95Asp
XM_005271170.1:c.285G>T	XP_005271227.1:p.Glu95Asp
XM_011542080.1:c.438G>T	XP_011540382.1:p.Glu146Asp
XM_011542081.1:c.333G>T	XP_011540383.1:p.Glu111Asp
NM_000374.5:c.501G>T MANE Select	NP_000365.3:p.Glu167Asp
NR_158184.1:n.582G>T
NR_158185.1:n.532G>T
NR_036510.2:n.563G>T