Canonical Allele Identifier: CA340118100

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45479446G>T (hg19) ; chr1:g.45013774G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013774G>T , CM000663.2:g.45013774G>T	GRCh38
NC_000001.10:g.45479446G>T , CM000663.1:g.45479446G>T	GRCh37
NC_000001.9:g.45252033G>T	NCBI36
NG_007122.2:g.6617G>T
NG_033058.1:g.2582C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.457G>T MANE Select	ENSP00000246337.4:p.Gly153Cys
ENST00000434478.6:c.511G>T	ENSP00000404489.2:p.Gly171Cys
ENST00000491773.6:c.352G>T	ENSP00000498551.1:p.Gly118Cys
ENST00000636293.1:c.457G>T	ENSP00000490710.1:p.Gly153Cys
ENST00000636836.1:c.457G>T	ENSP00000490594.1:p.Gly153Cys
ENST00000651476.1:c.352G>T	ENSP00000498668.1:p.Gly118Cys
ENST00000652165.1:c.352G>T	ENSP00000498295.1:p.Gly118Cys
ENST00000652287.1:c.394G>T	ENSP00000498413.1:p.Gly132Cys
ENST00000652514.1:c.418G>T	ENSP00000498635.1:n.418G>T
ENST00000246337.8:c.457G>T	ENSP00000246337.4:p.Gly153Cys
ENST00000428106.1:c.437G>T
ENST00000434478.5:c.394G>T	ENSP00000404489.1:p.Gly132Cys
ENST00000460334.5:n.484G>T
ENST00000460906.5:n.474G>T
ENST00000462688.5:n.584G>T
ENST00000463092.5:n.853G>T
ENST00000469548.5:n.653G>T
ENST00000473012.1:n.504G>T
ENST00000478467.5:n.460G>T
ENST00000486699.5:n.577G>T
ENST00000490385.5:n.531G>T
ENST00000491300.5:n.576G>T
ENST00000491773.5:n.611G>T
ENST00000494399.5:n.597G>T
ENST00000496439.1:n.436G>T
NM_000374.4:c.457G>T	NP_000365.3:p.Gly153Cys
NR_036510.1:n.640G>T
XM_005271169.1:c.241G>T	XP_005271226.1:p.Gly81Cys
XM_005271170.1:c.241G>T	XP_005271227.1:p.Gly81Cys
XM_011542080.1:c.394G>T	XP_011540382.1:p.Gly132Cys
XM_011542081.1:c.289G>T	XP_011540383.1:p.Gly97Cys
NM_000374.5:c.457G>T MANE Select	NP_000365.3:p.Gly153Cys
NR_158184.1:n.538G>T
NR_158185.1:n.488G>T
NR_036510.2:n.519G>T