Canonical Allele Identifier: CA340118222

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45479614G>C (hg19) ; chr1:g.45013942G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013942G>C , CM000663.2:g.45013942G>C	GRCh38
NC_000001.10:g.45479614G>C , CM000663.1:g.45479614G>C	GRCh37
NC_000001.9:g.45252201G>C	NCBI36
NG_007122.2:g.6785G>C
NG_033058.1:g.2414C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.508G>C MANE Select	ENSP00000246337.4:p.Gly170Arg
ENST00000434478.6:c.562G>C	ENSP00000404489.2:p.Gly188Arg
ENST00000491773.6:c.403G>C	ENSP00000498551.1:p.Gly135Arg
ENST00000636293.1:c.508G>C	ENSP00000490710.1:p.Gly170Arg
ENST00000636836.1:c.508G>C	ENSP00000490594.1:p.Gly170Arg
ENST00000651476.1:c.403G>C	ENSP00000498668.1:p.Gly135Arg
ENST00000652165.1:c.403G>C	ENSP00000498295.1:p.Gly135Arg
ENST00000652287.1:c.445G>C	ENSP00000498413.1:p.Gly149Arg
ENST00000652514.1:c.469G>C	ENSP00000498635.1:n.469G>C
ENST00000246337.8:c.508G>C	ENSP00000246337.4:p.Gly170Arg
ENST00000428106.1:c.454+151G>C
ENST00000434478.5:c.445G>C	ENSP00000404489.1:p.Gly149Arg
ENST00000460334.5:n.535G>C
ENST00000460906.5:n.642G>C
ENST00000462688.5:n.635G>C
ENST00000469548.5:n.704G>C
ENST00000473012.1:n.555G>C
ENST00000478467.5:n.511G>C
ENST00000486699.5:n.628G>C
ENST00000490385.5:n.582G>C
ENST00000491300.5:n.627G>C
ENST00000491773.5:n.662G>C
ENST00000494399.5:n.648G>C
ENST00000496439.1:n.604G>C
NM_000374.4:c.508G>C	NP_000365.3:p.Gly170Arg
NR_036510.1:n.691G>C
XM_005271169.1:c.292G>C	XP_005271226.1:p.Gly98Arg
XM_005271170.1:c.292G>C	XP_005271227.1:p.Gly98Arg
XM_011542080.1:c.445G>C	XP_011540382.1:p.Gly149Arg
XM_011542081.1:c.340G>C	XP_011540383.1:p.Gly114Arg
NM_000374.5:c.508G>C MANE Select	NP_000365.3:p.Gly170Arg
NR_158184.1:n.589G>C
NR_158185.1:n.539G>C
NR_036510.2:n.570G>C