Canonical Allele Identifier: CA340118246

Gene: UROD

Linked Data

• dbSNP Id: rs1190014573
• gnomAD v2: 1-45479624-C-A
• gnomAD v3: 1-45013952-C-A
• gnomAD v4: 1-45013952-C-A
• MyVariant Identifiers: chr1:g.45479624C>A (hg19) ; chr1:g.45013952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013952C>A , CM000663.2:g.45013952C>A	GRCh38
NC_000001.10:g.45479624C>A , CM000663.1:g.45479624C>A	GRCh37
NC_000001.9:g.45252211C>A	NCBI36
NG_007122.2:g.6795C>A
NG_033058.1:g.2404G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.518C>A MANE Select	ENSP00000246337.4:p.Thr173Asn
ENST00000434478.6:c.572C>A	ENSP00000404489.2:p.Thr191Asn
ENST00000491773.6:c.413C>A	ENSP00000498551.1:p.Thr138Asn
ENST00000636293.1:c.518C>A	ENSP00000490710.1:p.Thr173Asn
ENST00000636836.1:c.518C>A	ENSP00000490594.1:p.Thr173Asn
ENST00000651476.1:c.413C>A	ENSP00000498668.1:p.Thr138Asn
ENST00000652165.1:c.413C>A	ENSP00000498295.1:p.Thr138Asn
ENST00000652287.1:c.455C>A	ENSP00000498413.1:p.Thr152Asn
ENST00000652514.1:c.479C>A	ENSP00000498635.1:n.479C>A
ENST00000246337.8:c.518C>A	ENSP00000246337.4:p.Thr173Asn
ENST00000428106.1:c.454+161C>A
ENST00000434478.5:c.455C>A	ENSP00000404489.1:p.Thr152Asn
ENST00000460334.5:n.545C>A
ENST00000460906.5:n.652C>A
ENST00000462688.5:n.645C>A
ENST00000469548.5:n.714C>A
ENST00000473012.1:n.565C>A
ENST00000478467.5:n.521C>A
ENST00000486699.5:n.638C>A
ENST00000490385.5:n.592C>A
ENST00000491300.5:n.637C>A
ENST00000491773.5:n.672C>A
ENST00000494399.5:n.658C>A
ENST00000496439.1:n.614C>A
NM_000374.4:c.518C>A	NP_000365.3:p.Thr173Asn
NR_036510.1:n.701C>A
XM_005271169.1:c.302C>A	XP_005271226.1:p.Thr101Asn
XM_005271170.1:c.302C>A	XP_005271227.1:p.Thr101Asn
XM_011542080.1:c.455C>A	XP_011540382.1:p.Thr152Asn
XM_011542081.1:c.350C>A	XP_011540383.1:p.Thr117Asn
NM_000374.5:c.518C>A MANE Select	NP_000365.3:p.Thr173Asn
NR_158184.1:n.599C>A
NR_158185.1:n.549C>A
NR_036510.2:n.580C>A