Canonical Allele Identifier: CA340120633

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481013A>C (hg19) ; chr1:g.45015341A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015341A>C , CM000663.2:g.45015341A>C	GRCh38
NC_000001.10:g.45481013A>C , CM000663.1:g.45481013A>C	GRCh37
NC_000001.9:g.45253600A>C	NCBI36
NG_007122.2:g.8184A>C
NG_033058.1:g.1015T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.947A>C MANE Select	ENSP00000246337.4:p.Glu316Ala
ENST00000491773.6:c.704A>C	ENSP00000498551.1:p.Glu235Ala
ENST00000636293.1:c.809A>C	ENSP00000490710.1:p.Glu270Ala
ENST00000636836.1:c.880A>C	ENSP00000490594.1:p.Arg294=
ENST00000651476.1:c.842A>C	ENSP00000498668.1:p.Glu281Ala
ENST00000652165.1:c.704A>C	ENSP00000498295.1:p.Glu235Ala
ENST00000652287.1:c.884A>C	ENSP00000498413.1:p.Glu295Ala
ENST00000652514.1:c.908A>C	ENSP00000498635.1:n.908A>C
ENST00000246337.8:c.947A>C	ENSP00000246337.4:p.Glu316Ala
ENST00000465678.1:n.692A>C
ENST00000466193.1:n.473A>C
ENST00000472254.1:n.700A>C
ENST00000494399.5:n.1614A>C
NM_000374.4:c.947A>C	NP_000365.3:p.Glu316Ala
NR_036510.1:n.1130A>C
XM_005271169.1:c.731A>C	XP_005271226.1:p.Glu244Ala
XM_005271170.1:c.731A>C	XP_005271227.1:p.Glu244Ala
XM_011542080.1:c.884A>C	XP_011540382.1:p.Glu295Ala
XM_011542081.1:c.779A>C	XP_011540383.1:p.Glu260Ala
NM_000374.5:c.947A>C MANE Select	NP_000365.3:p.Glu316Ala
NR_158184.1:n.1028A>C
NR_158185.1:n.978A>C
NR_036510.2:n.1009A>C