Canonical Allele Identifier: CA10586360

Gene: UROD

Linked Data

• ClinVar Variation Id: 254172
• ClinVar RCV Id: RCV001857846 ; RCV002509339
• dbSNP Id: rs143823335
• gnomAD v2: 1-45479684-G-C
• gnomAD v4: 1-45014012-G-C
• MyVariant Identifiers: chr1:g.45479684G>C (hg19) ; chr1:g.45014012G>C (hg38)
• PubMed: PMID:19233912 ; PMID:23741761

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45014012G>C , CM000663.2:g.45014012G>C	GRCh38
NC_000001.10:g.45479684G>C , CM000663.1:g.45479684G>C	GRCh37
NC_000001.9:g.45252271G>C	NCBI36
NG_007122.2:g.6855G>C
NG_033058.1:g.2344C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.578G>C MANE Select	ENSP00000246337.4:p.Arg193Pro
ENST00000434478.6:c.632G>C	ENSP00000404489.2:p.Arg211Pro
ENST00000491773.6:c.473G>C	ENSP00000498551.1:p.Arg158Pro
ENST00000636293.1:c.578G>C	ENSP00000490710.1:p.Arg193Pro
ENST00000636836.1:c.578G>C	ENSP00000490594.1:p.Arg193Pro
ENST00000651476.1:c.473G>C	ENSP00000498668.1:p.Arg158Pro
ENST00000652165.1:c.473G>C	ENSP00000498295.1:p.Arg158Pro
ENST00000652287.1:c.515G>C	ENSP00000498413.1:p.Arg172Pro
ENST00000652514.1:c.539G>C	ENSP00000498635.1:n.539G>C
ENST00000246337.8:c.578G>C	ENSP00000246337.4:p.Arg193Pro
ENST00000428106.1:c.454+221G>C
ENST00000434478.5:c.515G>C	ENSP00000404489.1:p.Arg172Pro
ENST00000460334.5:n.605G>C
ENST00000460906.5:n.712G>C
ENST00000462688.5:n.705G>C
ENST00000469548.5:n.774G>C
ENST00000473012.1:n.625G>C
ENST00000478467.5:n.581G>C
ENST00000486699.5:n.698G>C
ENST00000490385.5:n.652G>C
ENST00000491300.5:n.697G>C
ENST00000494399.5:n.718G>C
ENST00000496439.1:n.674G>C
NM_000374.4:c.578G>C	NP_000365.3:p.Arg193Pro
NR_036510.1:n.761G>C
XM_005271169.1:c.362G>C	XP_005271226.1:p.Arg121Pro
XM_005271170.1:c.362G>C	XP_005271227.1:p.Arg121Pro
XM_011542080.1:c.515G>C	XP_011540382.1:p.Arg172Pro
XM_011542081.1:c.410G>C	XP_011540383.1:p.Arg137Pro
NM_000374.5:c.578G>C MANE Select	NP_000365.3:p.Arg193Pro
NR_158184.1:n.659G>C
NR_158185.1:n.609G>C
NR_036510.2:n.640G>C