Canonical Allele Identifier: CA340118263

Gene: UROD

Linked Data

• gnomAD v4: 1-45013961-A-G
• MyVariant Identifiers: chr1:g.45479633A>G (hg19) ; chr1:g.45013961A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013961A>G , CM000663.2:g.45013961A>G	GRCh38
NC_000001.10:g.45479633A>G , CM000663.1:g.45479633A>G	GRCh37
NC_000001.9:g.45252220A>G	NCBI36
NG_007122.2:g.6804A>G
NG_033058.1:g.2395T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.527A>G MANE Select	ENSP00000246337.4:p.Gln176Arg
ENST00000434478.6:c.581A>G	ENSP00000404489.2:p.Gln194Arg
ENST00000491773.6:c.422A>G	ENSP00000498551.1:p.Gln141Arg
ENST00000636293.1:c.527A>G	ENSP00000490710.1:p.Gln176Arg
ENST00000636836.1:c.527A>G	ENSP00000490594.1:p.Gln176Arg
ENST00000651476.1:c.422A>G	ENSP00000498668.1:p.Gln141Arg
ENST00000652165.1:c.422A>G	ENSP00000498295.1:p.Gln141Arg
ENST00000652287.1:c.464A>G	ENSP00000498413.1:p.Gln155Arg
ENST00000652514.1:c.488A>G	ENSP00000498635.1:n.488A>G
ENST00000246337.8:c.527A>G	ENSP00000246337.4:p.Gln176Arg
ENST00000428106.1:c.454+170A>G
ENST00000434478.5:c.464A>G	ENSP00000404489.1:p.Gln155Arg
ENST00000460334.5:n.554A>G
ENST00000460906.5:n.661A>G
ENST00000462688.5:n.654A>G
ENST00000469548.5:n.723A>G
ENST00000473012.1:n.574A>G
ENST00000478467.5:n.530A>G
ENST00000486699.5:n.647A>G
ENST00000490385.5:n.601A>G
ENST00000491300.5:n.646A>G
ENST00000494399.5:n.667A>G
ENST00000496439.1:n.623A>G
NM_000374.4:c.527A>G	NP_000365.3:p.Gln176Arg
NR_036510.1:n.710A>G
XM_005271169.1:c.311A>G	XP_005271226.1:p.Gln104Arg
XM_005271170.1:c.311A>G	XP_005271227.1:p.Gln104Arg
XM_011542080.1:c.464A>G	XP_011540382.1:p.Gln155Arg
XM_011542081.1:c.359A>G	XP_011540383.1:p.Gln120Arg
NM_000374.5:c.527A>G MANE Select	NP_000365.3:p.Gln176Arg
NR_158184.1:n.608A>G
NR_158185.1:n.558A>G
NR_036510.2:n.589A>G