Canonical Allele Identifier: CA417877872

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45479619A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013947A>C , CM000663.2:g.45013947A>C	GRCh38
NC_000001.10:g.45479619A>C , CM000663.1:g.45479619A>C	GRCh37
NC_000001.9:g.45252206A>C	NCBI36
NG_007122.2:g.6790A>C
NG_033058.1:g.2409T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.513A>C MANE Select	ENSP00000246337.4:p.Ser171=
ENST00000434478.6:c.567A>C	ENSP00000404489.2:p.Ser189=
ENST00000491773.6:c.408A>C	ENSP00000498551.1:p.Ser136=
ENST00000636293.1:c.513A>C	ENSP00000490710.1:p.Ser171=
ENST00000636836.1:c.513A>C	ENSP00000490594.1:p.Ser171=
ENST00000651476.1:c.408A>C	ENSP00000498668.1:p.Ser136=
ENST00000652165.1:c.408A>C	ENSP00000498295.1:p.Ser136=
ENST00000652287.1:c.450A>C	ENSP00000498413.1:p.Ser150=
ENST00000652514.1:c.474A>C	ENSP00000498635.1:n.474A>C
ENST00000246337.8:c.513A>C	ENSP00000246337.4:p.Ser171=
ENST00000428106.1:c.454+156A>C
ENST00000434478.5:c.450A>C	ENSP00000404489.1:p.Ser150=
ENST00000460334.5:n.540A>C
ENST00000460906.5:n.647A>C
ENST00000462688.5:n.640A>C
ENST00000469548.5:n.709A>C
ENST00000473012.1:n.560A>C
ENST00000478467.5:n.516A>C
ENST00000486699.5:n.633A>C
ENST00000490385.5:n.587A>C
ENST00000491300.5:n.632A>C
ENST00000491773.5:n.667A>C
ENST00000494399.5:n.653A>C
ENST00000496439.1:n.609A>C
NM_000374.4:c.513A>C	NP_000365.3:p.Ser171=
NR_036510.1:n.696A>C
XM_005271169.1:c.297A>C	XP_005271226.1:p.Ser99=
XM_005271170.1:c.297A>C	XP_005271227.1:p.Ser99=
XM_011542080.1:c.450A>C	XP_011540382.1:p.Ser150=
XM_011542081.1:c.345A>C	XP_011540383.1:p.Ser115=
NM_000374.5:c.513A>C MANE Select	NP_000365.3:p.Ser171=
NR_158184.1:n.594A>C
NR_158185.1:n.544A>C
NR_036510.2:n.575A>C