Canonical Allele Identifier: CA340118122

Gene: UROD

Linked Data

• dbSNP Id: rs762617943
• gnomAD v3: 1-45013784-G-T
• gnomAD v4: 1-45013784-G-T
• MyVariant Identifiers: chr1:g.45479456G>T (hg19) ; chr1:g.45013784G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013784G>T , CM000663.2:g.45013784G>T	GRCh38
NC_000001.10:g.45479456G>T , CM000663.1:g.45479456G>T	GRCh37
NC_000001.9:g.45252043G>T	NCBI36
NG_007122.2:g.6627G>T
NG_033058.1:g.2572C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.467G>T MANE Select	ENSP00000246337.4:p.Gly156Val
ENST00000434478.6:c.521G>T	ENSP00000404489.2:p.Gly174Val
ENST00000491773.6:c.362G>T	ENSP00000498551.1:p.Gly121Val
ENST00000636293.1:c.467G>T	ENSP00000490710.1:p.Gly156Val
ENST00000636836.1:c.467G>T	ENSP00000490594.1:p.Gly156Val
ENST00000651476.1:c.362G>T	ENSP00000498668.1:p.Gly121Val
ENST00000652165.1:c.362G>T	ENSP00000498295.1:p.Gly121Val
ENST00000652287.1:c.404G>T	ENSP00000498413.1:p.Gly135Val
ENST00000652514.1:c.428G>T	ENSP00000498635.1:n.428G>T
ENST00000246337.8:c.467G>T	ENSP00000246337.4:p.Gly156Val
ENST00000428106.1:c.447G>T
ENST00000434478.5:c.404G>T	ENSP00000404489.1:p.Gly135Val
ENST00000460334.5:n.494G>T
ENST00000460906.5:n.484G>T
ENST00000462688.5:n.594G>T
ENST00000463092.5:n.863G>T
ENST00000469548.5:n.663G>T
ENST00000473012.1:n.514G>T
ENST00000478467.5:n.470G>T
ENST00000486699.5:n.587G>T
ENST00000490385.5:n.541G>T
ENST00000491300.5:n.586G>T
ENST00000491773.5:n.621G>T
ENST00000494399.5:n.607G>T
ENST00000496439.1:n.446G>T
NM_000374.4:c.467G>T	NP_000365.3:p.Gly156Val
NR_036510.1:n.650G>T
XM_005271169.1:c.251G>T	XP_005271226.1:p.Gly84Val
XM_005271170.1:c.251G>T	XP_005271227.1:p.Gly84Val
XM_011542080.1:c.404G>T	XP_011540382.1:p.Gly135Val
XM_011542081.1:c.299G>T	XP_011540383.1:p.Gly100Val
NM_000374.5:c.467G>T MANE Select	NP_000365.3:p.Gly156Val
NR_158184.1:n.548G>T
NR_158185.1:n.498G>T
NR_036510.2:n.529G>T