Canonical Allele Identifier: CA825164

Gene: UROD

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013201G>T , CM000663.2:g.45013201G>T	GRCh38
NC_000001.10:g.45478873G>T , CM000663.1:g.45478873G>T	GRCh37
NC_000001.9:g.45251460G>T	NCBI36
NG_007122.2:g.6044G>T
NG_033058.1:g.3155C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.199G>T MANE Select	ENSP00000246337.4:p.Glu67Ter
ENST00000434478.6:c.199G>T	ENSP00000404489.2:p.Glu67Ter
ENST00000491773.6:c.94G>T	ENSP00000498551.1:p.Glu32Ter
ENST00000636293.1:c.199G>T	ENSP00000490710.1:p.Glu67Ter
ENST00000636836.1:c.199G>T	ENSP00000490594.1:p.Glu67Ter
ENST00000650713.1:c.94G>T	ENSP00000499014.1:p.Glu32Ter
ENST00000651476.1:c.94G>T	ENSP00000498668.1:p.Glu32Ter
ENST00000652165.1:c.94G>T	ENSP00000498295.1:p.Glu32Ter
ENST00000652287.1:c.199G>T	ENSP00000498413.1:p.Glu67Ter
ENST00000652514.1:c.151G>T	ENSP00000498635.1:p.Glu51Ter
ENST00000246337.8:c.199G>T	ENSP00000246337.4:p.Glu67Ter
ENST00000428106.1:c.179G>T
ENST00000434478.5:c.199G>T	ENSP00000404489.1:p.Glu67Ter
ENST00000460334.5:n.207G>T
ENST00000460906.5:n.197G>T
ENST00000461035.5:n.303G>T
ENST00000462688.5:n.250G>T
ENST00000463092.5:n.280G>T
ENST00000469548.5:n.395G>T
ENST00000473012.1:n.151G>T
ENST00000478467.5:n.217-91G>T
ENST00000486699.5:n.300G>T
ENST00000490385.5:n.197G>T
ENST00000491300.5:n.299G>T
ENST00000491773.5:n.353G>T
ENST00000494399.5:n.263G>T
ENST00000496439.1:n.178G>T
NM_000374.4:c.199G>T	NP_000365.3:p.Glu67Ter
NR_036510.1:n.382G>T
XM_005271169.1:c.-37G>T	XP_005271226.1:n.-37G>T
XM_005271170.1:c.-37G>T	XP_005271227.1:n.-37G>T
XM_011542080.1:c.199G>T	XP_011540382.1:p.Glu67Ter
XM_011542081.1:c.94G>T	XP_011540383.1:p.Glu32Ter
NM_000374.5:c.199G>T MANE Select	NP_000365.3:p.Glu67Ter
NR_158184.1:n.261G>T
NR_158185.1:n.211G>T
NR_036510.2:n.261G>T