Canonical Allele Identifier: CA340121134

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481133C>T (hg19) ; chr1:g.45015461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015461C>T , CM000663.2:g.45015461C>T	GRCh38
NC_000001.10:g.45481133C>T , CM000663.1:g.45481133C>T	GRCh37
NC_000001.9:g.45253720C>T	NCBI36
NG_007122.2:g.8304C>T
NG_033058.1:g.895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.1067C>T MANE Select	ENSP00000246337.4:p.Ala356Val
ENST00000491773.6:c.824C>T	ENSP00000498551.1:p.Ala275Val
ENST00000636293.1:c.929C>T	ENSP00000490710.1:p.Ala310Val
ENST00000636836.1:c.*103C>T	ENSP00000490594.1:n.*103C>T
ENST00000651476.1:c.962C>T	ENSP00000498668.1:p.Ala321Val
ENST00000652165.1:c.824C>T	ENSP00000498295.1:p.Ala275Val
ENST00000652287.1:c.1004C>T	ENSP00000498413.1:p.Ala335Val
ENST00000652514.1:c.1028C>T	ENSP00000498635.1:n.1028C>T
ENST00000246337.8:c.1067C>T	ENSP00000246337.4:p.Ala356Val
ENST00000472254.1:n.820C>T
ENST00000494399.5:n.1734C>T
NM_000374.4:c.1067C>T	NP_000365.3:p.Ala356Val
NR_036510.1:n.1250C>T
XM_005271169.1:c.851C>T	XP_005271226.1:p.Ala284Val
XM_005271170.1:c.851C>T	XP_005271227.1:p.Ala284Val
XM_011542080.1:c.1004C>T	XP_011540382.1:p.Ala335Val
XM_011542081.1:c.899C>T	XP_011540383.1:p.Ala300Val
NM_000374.5:c.1067C>T MANE Select	NP_000365.3:p.Ala356Val
NR_158184.1:n.1148C>T
NR_158185.1:n.1098C>T
NR_036510.2:n.1129C>T