Canonical Allele Identifier: CA340118238

Gene: UROD

Linked Data

• dbSNP Id: rs1467769295
• gnomAD v3: 1-45013949-G-A
• gnomAD v4: 1-45013949-G-A
• MyVariant Identifiers: chr1:g.45479621G>A (hg19) ; chr1:g.45013949G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013949G>A , CM000663.2:g.45013949G>A	GRCh38
NC_000001.10:g.45479621G>A , CM000663.1:g.45479621G>A	GRCh37
NC_000001.9:g.45252208G>A	NCBI36
NG_007122.2:g.6792G>A
NG_033058.1:g.2407C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.515G>A MANE Select	ENSP00000246337.4:p.Ser172Asn
ENST00000434478.6:c.569G>A	ENSP00000404489.2:p.Ser190Asn
ENST00000491773.6:c.410G>A	ENSP00000498551.1:p.Ser137Asn
ENST00000636293.1:c.515G>A	ENSP00000490710.1:p.Ser172Asn
ENST00000636836.1:c.515G>A	ENSP00000490594.1:p.Ser172Asn
ENST00000651476.1:c.410G>A	ENSP00000498668.1:p.Ser137Asn
ENST00000652165.1:c.410G>A	ENSP00000498295.1:p.Ser137Asn
ENST00000652287.1:c.452G>A	ENSP00000498413.1:p.Ser151Asn
ENST00000652514.1:c.476G>A	ENSP00000498635.1:n.476G>A
ENST00000246337.8:c.515G>A	ENSP00000246337.4:p.Ser172Asn
ENST00000428106.1:c.454+158G>A
ENST00000434478.5:c.452G>A	ENSP00000404489.1:p.Ser151Asn
ENST00000460334.5:n.542G>A
ENST00000460906.5:n.649G>A
ENST00000462688.5:n.642G>A
ENST00000469548.5:n.711G>A
ENST00000473012.1:n.562G>A
ENST00000478467.5:n.518G>A
ENST00000486699.5:n.635G>A
ENST00000490385.5:n.589G>A
ENST00000491300.5:n.634G>A
ENST00000491773.5:n.669G>A
ENST00000494399.5:n.655G>A
ENST00000496439.1:n.611G>A
NM_000374.4:c.515G>A	NP_000365.3:p.Ser172Asn
NR_036510.1:n.698G>A
XM_005271169.1:c.299G>A	XP_005271226.1:p.Ser100Asn
XM_005271170.1:c.299G>A	XP_005271227.1:p.Ser100Asn
XM_011542080.1:c.452G>A	XP_011540382.1:p.Ser151Asn
XM_011542081.1:c.347G>A	XP_011540383.1:p.Ser116Asn
NM_000374.5:c.515G>A MANE Select	NP_000365.3:p.Ser172Asn
NR_158184.1:n.596G>A
NR_158185.1:n.546G>A
NR_036510.2:n.577G>A