Canonical Allele Identifier: CA129629

Gene: UROD

Linked Data

• ClinVar Variation Id: 66
• ClinVar RCV Id: RCV000000083 ; RCV000024023 ; RCV000240661 ; RCV003555873
• dbSNP Id: rs121918057
• ExAC: 1:45480475 G / A
• gnomAD v2: 1-45480475-G-A
• gnomAD v3: 1-45014803-G-A
• gnomAD v4: 1-45014803-G-A
• MyVariant Identifiers: chr1:g.45480475G>A (hg19) ; chr1:g.45014803G>A (hg38)
• PubMed: PMID:2892774 ; PMID:2920211 ; PMID:3775362 ; PMID:7706766 ; PMID:8644733 ; PMID:23741761

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45014803G>A , CM000663.2:g.45014803G>A	GRCh38
NC_000001.10:g.45480475G>A , CM000663.1:g.45480475G>A	GRCh37
NC_000001.9:g.45253062G>A	NCBI36
NG_007122.2:g.7646G>A
NG_033058.1:g.1553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.842G>A MANE Select	ENSP00000246337.4:p.Gly281Glu
ENST00000491773.6:c.599G>A	ENSP00000498551.1:p.Gly200Glu
ENST00000636293.1:c.704G>A	ENSP00000490710.1:p.Gly235Glu
ENST00000636836.1:c.842G>A	ENSP00000490594.1:p.Gly281Glu
ENST00000651476.1:c.737G>A	ENSP00000498668.1:p.Gly246Glu
ENST00000652165.1:c.599G>A	ENSP00000498295.1:p.Gly200Glu
ENST00000652287.1:c.779G>A	ENSP00000498413.1:p.Gly260Glu
ENST00000652514.1:c.803G>A	ENSP00000498635.1:n.803G>A
ENST00000246337.8:c.842G>A	ENSP00000246337.4:p.Gly281Glu
ENST00000428106.1:c.660G>A
ENST00000465678.1:n.257G>A
ENST00000466193.1:n.265G>A
ENST00000469548.5:n.1038G>A
ENST00000472254.1:n.595G>A
ENST00000478467.5:n.845G>A
ENST00000486699.5:n.962G>A
ENST00000494399.5:n.1509G>A
NM_000374.4:c.842G>A	NP_000365.3:p.Gly281Glu
NR_036510.1:n.1025G>A
XM_005271169.1:c.626G>A	XP_005271226.1:p.Gly209Glu
XM_005271170.1:c.626G>A	XP_005271227.1:p.Gly209Glu
XM_011542080.1:c.779G>A	XP_011540382.1:p.Gly260Glu
XM_011542081.1:c.674G>A	XP_011540383.1:p.Gly225Glu
NM_000374.5:c.842G>A MANE Select	NP_000365.3:p.Gly281Glu
NR_158184.1:n.923G>A
NR_158185.1:n.873G>A
NR_036510.2:n.904G>A