Canonical Allele Identifier: CA417877880

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45479631T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013959T>G , CM000663.2:g.45013959T>G	GRCh38
NC_000001.10:g.45479631T>G , CM000663.1:g.45479631T>G	GRCh37
NC_000001.9:g.45252218T>G	NCBI36
NG_007122.2:g.6802T>G
NG_033058.1:g.2397A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.525T>G MANE Select	ENSP00000246337.4:p.Ala175=
ENST00000434478.6:c.579T>G	ENSP00000404489.2:p.Ala193=
ENST00000491773.6:c.420T>G	ENSP00000498551.1:p.Ala140=
ENST00000636293.1:c.525T>G	ENSP00000490710.1:p.Ala175=
ENST00000636836.1:c.525T>G	ENSP00000490594.1:p.Ala175=
ENST00000651476.1:c.420T>G	ENSP00000498668.1:p.Ala140=
ENST00000652165.1:c.420T>G	ENSP00000498295.1:p.Ala140=
ENST00000652287.1:c.462T>G	ENSP00000498413.1:p.Ala154=
ENST00000652514.1:c.486T>G	ENSP00000498635.1:n.486T>G
ENST00000246337.8:c.525T>G	ENSP00000246337.4:p.Ala175=
ENST00000428106.1:c.454+168T>G
ENST00000434478.5:c.462T>G	ENSP00000404489.1:p.Ala154=
ENST00000460334.5:n.552T>G
ENST00000460906.5:n.659T>G
ENST00000462688.5:n.652T>G
ENST00000469548.5:n.721T>G
ENST00000473012.1:n.572T>G
ENST00000478467.5:n.528T>G
ENST00000486699.5:n.645T>G
ENST00000490385.5:n.599T>G
ENST00000491300.5:n.644T>G
ENST00000494399.5:n.665T>G
ENST00000496439.1:n.621T>G
NM_000374.4:c.525T>G	NP_000365.3:p.Ala175=
NR_036510.1:n.708T>G
XM_005271169.1:c.309T>G	XP_005271226.1:p.Ala103=
XM_005271170.1:c.309T>G	XP_005271227.1:p.Ala103=
XM_011542080.1:c.462T>G	XP_011540382.1:p.Ala154=
XM_011542081.1:c.357T>G	XP_011540383.1:p.Ala119=
NM_000374.5:c.525T>G MANE Select	NP_000365.3:p.Ala175=
NR_158184.1:n.606T>G
NR_158185.1:n.556T>G
NR_036510.2:n.587T>G