Canonical Allele Identifier: CA340118233

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45479620A>C (hg19) ; chr1:g.45013948A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013948A>C , CM000663.2:g.45013948A>C	GRCh38
NC_000001.10:g.45479620A>C , CM000663.1:g.45479620A>C	GRCh37
NC_000001.9:g.45252207A>C	NCBI36
NG_007122.2:g.6791A>C
NG_033058.1:g.2408T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.514A>C MANE Select	ENSP00000246337.4:p.Ser172Arg
ENST00000434478.6:c.568A>C	ENSP00000404489.2:p.Ser190Arg
ENST00000491773.6:c.409A>C	ENSP00000498551.1:p.Ser137Arg
ENST00000636293.1:c.514A>C	ENSP00000490710.1:p.Ser172Arg
ENST00000636836.1:c.514A>C	ENSP00000490594.1:p.Ser172Arg
ENST00000651476.1:c.409A>C	ENSP00000498668.1:p.Ser137Arg
ENST00000652165.1:c.409A>C	ENSP00000498295.1:p.Ser137Arg
ENST00000652287.1:c.451A>C	ENSP00000498413.1:p.Ser151Arg
ENST00000652514.1:c.475A>C	ENSP00000498635.1:n.475A>C
ENST00000246337.8:c.514A>C	ENSP00000246337.4:p.Ser172Arg
ENST00000428106.1:c.454+157A>C
ENST00000434478.5:c.451A>C	ENSP00000404489.1:p.Ser151Arg
ENST00000460334.5:n.541A>C
ENST00000460906.5:n.648A>C
ENST00000462688.5:n.641A>C
ENST00000469548.5:n.710A>C
ENST00000473012.1:n.561A>C
ENST00000478467.5:n.517A>C
ENST00000486699.5:n.634A>C
ENST00000490385.5:n.588A>C
ENST00000491300.5:n.633A>C
ENST00000491773.5:n.668A>C
ENST00000494399.5:n.654A>C
ENST00000496439.1:n.610A>C
NM_000374.4:c.514A>C	NP_000365.3:p.Ser172Arg
NR_036510.1:n.697A>C
XM_005271169.1:c.298A>C	XP_005271226.1:p.Ser100Arg
XM_005271170.1:c.298A>C	XP_005271227.1:p.Ser100Arg
XM_011542080.1:c.451A>C	XP_011540382.1:p.Ser151Arg
XM_011542081.1:c.346A>C	XP_011540383.1:p.Ser116Arg
NM_000374.5:c.514A>C MANE Select	NP_000365.3:p.Ser172Arg
NR_158184.1:n.595A>C
NR_158185.1:n.545A>C
NR_036510.2:n.576A>C