Canonical Allele Identifier: CA417877867

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45479613T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013941T>C , CM000663.2:g.45013941T>C	GRCh38
NC_000001.10:g.45479613T>C , CM000663.1:g.45479613T>C	GRCh37
NC_000001.9:g.45252200T>C	NCBI36
NG_007122.2:g.6784T>C
NG_033058.1:g.2415A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.507T>C MANE Select	ENSP00000246337.4:p.Gly169=
ENST00000434478.6:c.561T>C	ENSP00000404489.2:p.Gly187=
ENST00000491773.6:c.402T>C	ENSP00000498551.1:p.Gly134=
ENST00000636293.1:c.507T>C	ENSP00000490710.1:p.Gly169=
ENST00000636836.1:c.507T>C	ENSP00000490594.1:p.Gly169=
ENST00000651476.1:c.402T>C	ENSP00000498668.1:p.Gly134=
ENST00000652165.1:c.402T>C	ENSP00000498295.1:p.Gly134=
ENST00000652287.1:c.444T>C	ENSP00000498413.1:p.Gly148=
ENST00000652514.1:c.468T>C	ENSP00000498635.1:n.468T>C
ENST00000246337.8:c.507T>C	ENSP00000246337.4:p.Gly169=
ENST00000428106.1:c.454+150T>C
ENST00000434478.5:c.444T>C	ENSP00000404489.1:p.Gly148=
ENST00000460334.5:n.534T>C
ENST00000460906.5:n.641T>C
ENST00000462688.5:n.634T>C
ENST00000469548.5:n.703T>C
ENST00000473012.1:n.554T>C
ENST00000478467.5:n.510T>C
ENST00000486699.5:n.627T>C
ENST00000490385.5:n.581T>C
ENST00000491300.5:n.626T>C
ENST00000491773.5:n.661T>C
ENST00000494399.5:n.647T>C
ENST00000496439.1:n.603T>C
NM_000374.4:c.507T>C	NP_000365.3:p.Gly169=
NR_036510.1:n.690T>C
XM_005271169.1:c.291T>C	XP_005271226.1:p.Gly97=
XM_005271170.1:c.291T>C	XP_005271227.1:p.Gly97=
XM_011542080.1:c.444T>C	XP_011540382.1:p.Gly148=
XM_011542081.1:c.339T>C	XP_011540383.1:p.Gly113=
NM_000374.5:c.507T>C MANE Select	NP_000365.3:p.Gly169=
NR_158184.1:n.588T>C
NR_158185.1:n.538T>C
NR_036510.2:n.569T>C