Canonical Allele Identifier: CA340118259

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45479632C>A (hg19) ; chr1:g.45013960C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013960C>A , CM000663.2:g.45013960C>A	GRCh38
NC_000001.10:g.45479632C>A , CM000663.1:g.45479632C>A	GRCh37
NC_000001.9:g.45252219C>A	NCBI36
NG_007122.2:g.6803C>A
NG_033058.1:g.2396G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.526C>A MANE Select	ENSP00000246337.4:p.Gln176Lys
ENST00000434478.6:c.580C>A	ENSP00000404489.2:p.Gln194Lys
ENST00000491773.6:c.421C>A	ENSP00000498551.1:p.Gln141Lys
ENST00000636293.1:c.526C>A	ENSP00000490710.1:p.Gln176Lys
ENST00000636836.1:c.526C>A	ENSP00000490594.1:p.Gln176Lys
ENST00000651476.1:c.421C>A	ENSP00000498668.1:p.Gln141Lys
ENST00000652165.1:c.421C>A	ENSP00000498295.1:p.Gln141Lys
ENST00000652287.1:c.463C>A	ENSP00000498413.1:p.Gln155Lys
ENST00000652514.1:c.487C>A	ENSP00000498635.1:n.487C>A
ENST00000246337.8:c.526C>A	ENSP00000246337.4:p.Gln176Lys
ENST00000428106.1:c.454+169C>A
ENST00000434478.5:c.463C>A	ENSP00000404489.1:p.Gln155Lys
ENST00000460334.5:n.553C>A
ENST00000460906.5:n.660C>A
ENST00000462688.5:n.653C>A
ENST00000469548.5:n.722C>A
ENST00000473012.1:n.573C>A
ENST00000478467.5:n.529C>A
ENST00000486699.5:n.646C>A
ENST00000490385.5:n.600C>A
ENST00000491300.5:n.645C>A
ENST00000494399.5:n.666C>A
ENST00000496439.1:n.622C>A
NM_000374.4:c.526C>A	NP_000365.3:p.Gln176Lys
NR_036510.1:n.709C>A
XM_005271169.1:c.310C>A	XP_005271226.1:p.Gln104Lys
XM_005271170.1:c.310C>A	XP_005271227.1:p.Gln104Lys
XM_011542080.1:c.463C>A	XP_011540382.1:p.Gln155Lys
XM_011542081.1:c.358C>A	XP_011540383.1:p.Gln120Lys
NM_000374.5:c.526C>A MANE Select	NP_000365.3:p.Gln176Lys
NR_158184.1:n.607C>A
NR_158185.1:n.557C>A
NR_036510.2:n.588C>A