Canonical Allele Identifier: CA340118231

Gene: UROD

Linked Data

• gnomAD v4: 1-45013946-C-G
• MyVariant Identifiers: chr1:g.45479618C>G (hg19) ; chr1:g.45013946C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013946C>G , CM000663.2:g.45013946C>G	GRCh38
NC_000001.10:g.45479618C>G , CM000663.1:g.45479618C>G	GRCh37
NC_000001.9:g.45252205C>G	NCBI36
NG_007122.2:g.6789C>G
NG_033058.1:g.2410G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.512C>G MANE Select	ENSP00000246337.4:p.Ser171Ter
ENST00000434478.6:c.566C>G	ENSP00000404489.2:p.Ser189Ter
ENST00000491773.6:c.407C>G	ENSP00000498551.1:p.Ser136Ter
ENST00000636293.1:c.512C>G	ENSP00000490710.1:p.Ser171Ter
ENST00000636836.1:c.512C>G	ENSP00000490594.1:p.Ser171Ter
ENST00000651476.1:c.407C>G	ENSP00000498668.1:p.Ser136Ter
ENST00000652165.1:c.407C>G	ENSP00000498295.1:p.Ser136Ter
ENST00000652287.1:c.449C>G	ENSP00000498413.1:p.Ser150Ter
ENST00000652514.1:c.473C>G	ENSP00000498635.1:n.473C>G
ENST00000246337.8:c.512C>G	ENSP00000246337.4:p.Ser171Ter
ENST00000428106.1:c.454+155C>G
ENST00000434478.5:c.449C>G	ENSP00000404489.1:p.Ser150Ter
ENST00000460334.5:n.539C>G
ENST00000460906.5:n.646C>G
ENST00000462688.5:n.639C>G
ENST00000469548.5:n.708C>G
ENST00000473012.1:n.559C>G
ENST00000478467.5:n.515C>G
ENST00000486699.5:n.632C>G
ENST00000490385.5:n.586C>G
ENST00000491300.5:n.631C>G
ENST00000491773.5:n.666C>G
ENST00000494399.5:n.652C>G
ENST00000496439.1:n.608C>G
NM_000374.4:c.512C>G	NP_000365.3:p.Ser171Ter
NR_036510.1:n.695C>G
XM_005271169.1:c.296C>G	XP_005271226.1:p.Ser99Ter
XM_005271170.1:c.296C>G	XP_005271227.1:p.Ser99Ter
XM_011542080.1:c.449C>G	XP_011540382.1:p.Ser150Ter
XM_011542081.1:c.344C>G	XP_011540383.1:p.Ser115Ter
NM_000374.5:c.512C>G MANE Select	NP_000365.3:p.Ser171Ter
NR_158184.1:n.593C>G
NR_158185.1:n.543C>G
NR_036510.2:n.574C>G