Canonical Allele Identifier: CA340118257

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45479630C>G (hg19) ; chr1:g.45013958C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013958C>G , CM000663.2:g.45013958C>G	GRCh38
NC_000001.10:g.45479630C>G , CM000663.1:g.45479630C>G	GRCh37
NC_000001.9:g.45252217C>G	NCBI36
NG_007122.2:g.6801C>G
NG_033058.1:g.2398G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.524C>G MANE Select	ENSP00000246337.4:p.Ala175Gly
ENST00000434478.6:c.578C>G	ENSP00000404489.2:p.Ala193Gly
ENST00000491773.6:c.419C>G	ENSP00000498551.1:p.Ala140Gly
ENST00000636293.1:c.524C>G	ENSP00000490710.1:p.Ala175Gly
ENST00000636836.1:c.524C>G	ENSP00000490594.1:p.Ala175Gly
ENST00000651476.1:c.419C>G	ENSP00000498668.1:p.Ala140Gly
ENST00000652165.1:c.419C>G	ENSP00000498295.1:p.Ala140Gly
ENST00000652287.1:c.461C>G	ENSP00000498413.1:p.Ala154Gly
ENST00000652514.1:c.485C>G	ENSP00000498635.1:n.485C>G
ENST00000246337.8:c.524C>G	ENSP00000246337.4:p.Ala175Gly
ENST00000428106.1:c.454+167C>G
ENST00000434478.5:c.461C>G	ENSP00000404489.1:p.Ala154Gly
ENST00000460334.5:n.551C>G
ENST00000460906.5:n.658C>G
ENST00000462688.5:n.651C>G
ENST00000469548.5:n.720C>G
ENST00000473012.1:n.571C>G
ENST00000478467.5:n.527C>G
ENST00000486699.5:n.644C>G
ENST00000490385.5:n.598C>G
ENST00000491300.5:n.643C>G
ENST00000494399.5:n.664C>G
ENST00000496439.1:n.620C>G
NM_000374.4:c.524C>G	NP_000365.3:p.Ala175Gly
NR_036510.1:n.707C>G
XM_005271169.1:c.308C>G	XP_005271226.1:p.Ala103Gly
XM_005271170.1:c.308C>G	XP_005271227.1:p.Ala103Gly
XM_011542080.1:c.461C>G	XP_011540382.1:p.Ala154Gly
XM_011542081.1:c.356C>G	XP_011540383.1:p.Ala119Gly
NM_000374.5:c.524C>G MANE Select	NP_000365.3:p.Ala175Gly
NR_158184.1:n.605C>G
NR_158185.1:n.555C>G
NR_036510.2:n.586C>G