Canonical Allele Identifier: CA340120829

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481063T>C (hg19) ; chr1:g.45015391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015391T>C , CM000663.2:g.45015391T>C	GRCh38
NC_000001.10:g.45481063T>C , CM000663.1:g.45481063T>C	GRCh37
NC_000001.9:g.45253650T>C	NCBI36
NG_007122.2:g.8234T>C
NG_033058.1:g.965A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.997T>C MANE Select	ENSP00000246337.4:p.Tyr333His
ENST00000491773.6:c.754T>C	ENSP00000498551.1:p.Tyr252His
ENST00000636293.1:c.859T>C	ENSP00000490710.1:p.Tyr287His
ENST00000636836.1:c.*33T>C	ENSP00000490594.1:n.*33T>C
ENST00000651476.1:c.892T>C	ENSP00000498668.1:p.Tyr298His
ENST00000652165.1:c.754T>C	ENSP00000498295.1:p.Tyr252His
ENST00000652287.1:c.934T>C	ENSP00000498413.1:p.Tyr312His
ENST00000652514.1:c.958T>C	ENSP00000498635.1:n.958T>C
ENST00000246337.8:c.997T>C	ENSP00000246337.4:p.Tyr333His
ENST00000465678.1:n.742T>C
ENST00000466193.1:n.523T>C
ENST00000472254.1:n.750T>C
ENST00000494399.5:n.1664T>C
NM_000374.4:c.997T>C	NP_000365.3:p.Tyr333His
NR_036510.1:n.1180T>C
XM_005271169.1:c.781T>C	XP_005271226.1:p.Tyr261His
XM_005271170.1:c.781T>C	XP_005271227.1:p.Tyr261His
XM_011542080.1:c.934T>C	XP_011540382.1:p.Tyr312His
XM_011542081.1:c.829T>C	XP_011540383.1:p.Tyr277His
NM_000374.5:c.997T>C MANE Select	NP_000365.3:p.Tyr333His
NR_158184.1:n.1078T>C
NR_158185.1:n.1028T>C
NR_036510.2:n.1059T>C