Canonical Allele Identifier: CA340118261

Gene: UROD

Linked Data

• gnomAD v4: 1-45013960-C-T
• MyVariant Identifiers: chr1:g.45479632C>T (hg19) ; chr1:g.45013960C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.526C>T MANE Select	ENSP00000246337.4:p.Gln176Ter
ENST00000434478.6:c.580C>T	ENSP00000404489.2:p.Gln194Ter
ENST00000491773.6:c.421C>T	ENSP00000498551.1:p.Gln141Ter
ENST00000636293.1:c.526C>T	ENSP00000490710.1:p.Gln176Ter
ENST00000636836.1:c.526C>T	ENSP00000490594.1:p.Gln176Ter
ENST00000651476.1:c.421C>T	ENSP00000498668.1:p.Gln141Ter
ENST00000652165.1:c.421C>T	ENSP00000498295.1:p.Gln141Ter
ENST00000652287.1:c.463C>T	ENSP00000498413.1:p.Gln155Ter
ENST00000652514.1:c.487C>T	ENSP00000498635.1:n.487C>T
ENST00000246337.8:c.526C>T	ENSP00000246337.4:p.Gln176Ter
ENST00000428106.1:c.454+169C>T
ENST00000434478.5:c.463C>T	ENSP00000404489.1:p.Gln155Ter
ENST00000460334.5:n.553C>T
ENST00000460906.5:n.660C>T
ENST00000462688.5:n.653C>T
ENST00000469548.5:n.722C>T
ENST00000473012.1:n.573C>T
ENST00000478467.5:n.529C>T
ENST00000486699.5:n.646C>T
ENST00000490385.5:n.600C>T
ENST00000491300.5:n.645C>T
ENST00000494399.5:n.666C>T
ENST00000496439.1:n.622C>T
NM_000374.4:c.526C>T	NP_000365.3:p.Gln176Ter
NR_036510.1:n.709C>T
XM_005271169.1:c.310C>T	XP_005271226.1:p.Gln104Ter
XM_005271170.1:c.310C>T	XP_005271227.1:p.Gln104Ter
XM_011542080.1:c.463C>T	XP_011540382.1:p.Gln155Ter
XM_011542081.1:c.358C>T	XP_011540383.1:p.Gln120Ter
NM_000374.5:c.526C>T MANE Select	NP_000365.3:p.Gln176Ter
NR_158184.1:n.607C>T
NR_158185.1:n.557C>T
NR_036510.2:n.588C>T