Canonical Allele Identifier: CA340120849

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481067T>G (hg19) ; chr1:g.45015395T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015395T>G , CM000663.2:g.45015395T>G	GRCh38
NC_000001.10:g.45481067T>G , CM000663.1:g.45481067T>G	GRCh37
NC_000001.9:g.45253654T>G	NCBI36
NG_007122.2:g.8238T>G
NG_033058.1:g.961A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1001T>G MANE Select	ENSP00000246337.4:p.Ile334Ser
ENST00000491773.6:c.758T>G	ENSP00000498551.1:p.Ile253Ser
ENST00000636293.1:c.863T>G	ENSP00000490710.1:p.Ile288Ser
ENST00000636836.1:c.*37T>G	ENSP00000490594.1:n.*37T>G
ENST00000651476.1:c.896T>G	ENSP00000498668.1:p.Ile299Ser
ENST00000652165.1:c.758T>G	ENSP00000498295.1:p.Ile253Ser
ENST00000652287.1:c.938T>G	ENSP00000498413.1:p.Ile313Ser
ENST00000652514.1:c.962T>G	ENSP00000498635.1:n.962T>G
ENST00000246337.8:c.1001T>G	ENSP00000246337.4:p.Ile334Ser
ENST00000465678.1:n.746T>G
ENST00000472254.1:n.754T>G
ENST00000494399.5:n.1668T>G
NM_000374.4:c.1001T>G	NP_000365.3:p.Ile334Ser
NR_036510.1:n.1184T>G
XM_005271169.1:c.785T>G	XP_005271226.1:p.Ile262Ser
XM_005271170.1:c.785T>G	XP_005271227.1:p.Ile262Ser
XM_011542080.1:c.938T>G	XP_011540382.1:p.Ile313Ser
XM_011542081.1:c.833T>G	XP_011540383.1:p.Ile278Ser
NM_000374.5:c.1001T>G MANE Select	NP_000365.3:p.Ile334Ser
NR_158184.1:n.1082T>G
NR_158185.1:n.1032T>G
NR_036510.2:n.1063T>G