Canonical Allele Identifier: CA417877847

Gene: UROD

Linked Data

• gnomAD v4: 1-45013791-A-G
• MyVariant Identifiers: chr1:g.45479463A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013791A>G , CM000663.2:g.45013791A>G	GRCh38
NC_000001.10:g.45479463A>G , CM000663.1:g.45479463A>G	GRCh37
NC_000001.9:g.45252050A>G	NCBI36
NG_007122.2:g.6634A>G
NG_033058.1:g.2565T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.474A>G MANE Select	ENSP00000246337.4:p.Pro158=
ENST00000434478.6:c.528A>G	ENSP00000404489.2:p.Pro176=
ENST00000491773.6:c.369A>G	ENSP00000498551.1:p.Pro123=
ENST00000636293.1:c.474A>G	ENSP00000490710.1:p.Pro158=
ENST00000636836.1:c.474A>G	ENSP00000490594.1:p.Pro158=
ENST00000651476.1:c.369A>G	ENSP00000498668.1:p.Pro123=
ENST00000652165.1:c.369A>G	ENSP00000498295.1:p.Pro123=
ENST00000652287.1:c.411A>G	ENSP00000498413.1:p.Pro137=
ENST00000652514.1:c.435A>G	ENSP00000498635.1:n.435A>G
ENST00000246337.8:c.474A>G	ENSP00000246337.4:p.Pro158=
ENST00000428106.1:c.454A>G
ENST00000434478.5:c.411A>G	ENSP00000404489.1:p.Pro137=
ENST00000460334.5:n.501A>G
ENST00000460906.5:n.491A>G
ENST00000462688.5:n.601A>G
ENST00000463092.5:n.870A>G
ENST00000469548.5:n.670A>G
ENST00000473012.1:n.521A>G
ENST00000478467.5:n.477A>G
ENST00000486699.5:n.594A>G
ENST00000490385.5:n.548A>G
ENST00000491300.5:n.593A>G
ENST00000491773.5:n.628A>G
ENST00000494399.5:n.614A>G
ENST00000496439.1:n.453A>G
NM_000374.4:c.474A>G	NP_000365.3:p.Pro158=
NR_036510.1:n.657A>G
XM_005271169.1:c.258A>G	XP_005271226.1:p.Pro86=
XM_005271170.1:c.258A>G	XP_005271227.1:p.Pro86=
XM_011542080.1:c.411A>G	XP_011540382.1:p.Pro137=
XM_011542081.1:c.306A>G	XP_011540383.1:p.Pro102=
NM_000374.5:c.474A>G MANE Select	NP_000365.3:p.Pro158=
NR_158184.1:n.555A>G
NR_158185.1:n.505A>G
NR_036510.2:n.536A>G