Canonical Allele Identifier: CA340118216

Gene: UROD

Linked Data

• gnomAD v4: 1-45013939-G-T
• MyVariant Identifiers: chr1:g.45479611G>T (hg19) ; chr1:g.45013939G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013939G>T , CM000663.2:g.45013939G>T	GRCh38
NC_000001.10:g.45479611G>T , CM000663.1:g.45479611G>T	GRCh37
NC_000001.9:g.45252198G>T	NCBI36
NG_007122.2:g.6782G>T
NG_033058.1:g.2417C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.505G>T MANE Select	ENSP00000246337.4:p.Gly169Cys
ENST00000434478.6:c.559G>T	ENSP00000404489.2:p.Gly187Cys
ENST00000491773.6:c.400G>T	ENSP00000498551.1:p.Gly134Cys
ENST00000636293.1:c.505G>T	ENSP00000490710.1:p.Gly169Cys
ENST00000636836.1:c.505G>T	ENSP00000490594.1:p.Gly169Cys
ENST00000651476.1:c.400G>T	ENSP00000498668.1:p.Gly134Cys
ENST00000652165.1:c.400G>T	ENSP00000498295.1:p.Gly134Cys
ENST00000652287.1:c.442G>T	ENSP00000498413.1:p.Gly148Cys
ENST00000652514.1:c.466G>T	ENSP00000498635.1:n.466G>T
ENST00000246337.8:c.505G>T	ENSP00000246337.4:p.Gly169Cys
ENST00000428106.1:c.454+148G>T
ENST00000434478.5:c.442G>T	ENSP00000404489.1:p.Gly148Cys
ENST00000460334.5:n.532G>T
ENST00000460906.5:n.639G>T
ENST00000462688.5:n.632G>T
ENST00000469548.5:n.701G>T
ENST00000473012.1:n.552G>T
ENST00000478467.5:n.508G>T
ENST00000486699.5:n.625G>T
ENST00000490385.5:n.579G>T
ENST00000491300.5:n.624G>T
ENST00000491773.5:n.659G>T
ENST00000494399.5:n.645G>T
ENST00000496439.1:n.601G>T
NM_000374.4:c.505G>T	NP_000365.3:p.Gly169Cys
NR_036510.1:n.688G>T
XM_005271169.1:c.289G>T	XP_005271226.1:p.Gly97Cys
XM_005271170.1:c.289G>T	XP_005271227.1:p.Gly97Cys
XM_011542080.1:c.442G>T	XP_011540382.1:p.Gly148Cys
XM_011542081.1:c.337G>T	XP_011540383.1:p.Gly113Cys
NM_000374.5:c.505G>T MANE Select	NP_000365.3:p.Gly169Cys
NR_158184.1:n.586G>T
NR_158185.1:n.536G>T
NR_036510.2:n.567G>T