Canonical Allele Identifier: CA417877870

Gene: UROD

Linked Data

• dbSNP Id: rs1193351328
• gnomAD v3: 1-45013944-C-G
• gnomAD v4: 1-45013944-C-G
• MyVariant Identifiers: chr1:g.45479616C>G (hg19) ; chr1:g.45013944C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013944C>G , CM000663.2:g.45013944C>G	GRCh38
NC_000001.10:g.45479616C>G , CM000663.1:g.45479616C>G	GRCh37
NC_000001.9:g.45252203C>G	NCBI36
NG_007122.2:g.6787C>G
NG_033058.1:g.2412G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.510C>G MANE Select	ENSP00000246337.4:p.Gly170=
ENST00000434478.6:c.564C>G	ENSP00000404489.2:p.Gly188=
ENST00000491773.6:c.405C>G	ENSP00000498551.1:p.Gly135=
ENST00000636293.1:c.510C>G	ENSP00000490710.1:p.Gly170=
ENST00000636836.1:c.510C>G	ENSP00000490594.1:p.Gly170=
ENST00000651476.1:c.405C>G	ENSP00000498668.1:p.Gly135=
ENST00000652165.1:c.405C>G	ENSP00000498295.1:p.Gly135=
ENST00000652287.1:c.447C>G	ENSP00000498413.1:p.Gly149=
ENST00000652514.1:c.471C>G	ENSP00000498635.1:n.471C>G
ENST00000246337.8:c.510C>G	ENSP00000246337.4:p.Gly170=
ENST00000428106.1:c.454+153C>G
ENST00000434478.5:c.447C>G	ENSP00000404489.1:p.Gly149=
ENST00000460334.5:n.537C>G
ENST00000460906.5:n.644C>G
ENST00000462688.5:n.637C>G
ENST00000469548.5:n.706C>G
ENST00000473012.1:n.557C>G
ENST00000478467.5:n.513C>G
ENST00000486699.5:n.630C>G
ENST00000490385.5:n.584C>G
ENST00000491300.5:n.629C>G
ENST00000491773.5:n.664C>G
ENST00000494399.5:n.650C>G
ENST00000496439.1:n.606C>G
NM_000374.4:c.510C>G	NP_000365.3:p.Gly170=
NR_036510.1:n.693C>G
XM_005271169.1:c.294C>G	XP_005271226.1:p.Gly98=
XM_005271170.1:c.294C>G	XP_005271227.1:p.Gly98=
XM_011542080.1:c.447C>G	XP_011540382.1:p.Gly149=
XM_011542081.1:c.342C>G	XP_011540383.1:p.Gly114=
NM_000374.5:c.510C>G MANE Select	NP_000365.3:p.Gly170=
NR_158184.1:n.591C>G
NR_158185.1:n.541C>G
NR_036510.2:n.572C>G