Canonical Allele Identifier: CA340120846

Gene: UROD

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1001T>A MANE Select	ENSP00000246337.4:p.Ile334Asn
ENST00000491773.6:c.758T>A	ENSP00000498551.1:p.Ile253Asn
ENST00000636293.1:c.863T>A	ENSP00000490710.1:p.Ile288Asn
ENST00000636836.1:c.*37T>A	ENSP00000490594.1:n.*37T>A
ENST00000651476.1:c.896T>A	ENSP00000498668.1:p.Ile299Asn
ENST00000652165.1:c.758T>A	ENSP00000498295.1:p.Ile253Asn
ENST00000652287.1:c.938T>A	ENSP00000498413.1:p.Ile313Asn
ENST00000652514.1:c.962T>A	ENSP00000498635.1:n.962T>A
ENST00000246337.8:c.1001T>A	ENSP00000246337.4:p.Ile334Asn
ENST00000465678.1:n.746T>A
ENST00000472254.1:n.754T>A
ENST00000494399.5:n.1668T>A
NM_000374.4:c.1001T>A	NP_000365.3:p.Ile334Asn
NR_036510.1:n.1184T>A
XM_005271169.1:c.785T>A	XP_005271226.1:p.Ile262Asn
XM_005271170.1:c.785T>A	XP_005271227.1:p.Ile262Asn
XM_011542080.1:c.938T>A	XP_011540382.1:p.Ile313Asn
XM_011542081.1:c.833T>A	XP_011540383.1:p.Ile278Asn
NM_000374.5:c.1001T>A MANE Select	NP_000365.3:p.Ile334Asn
NR_158184.1:n.1082T>A
NR_158185.1:n.1032T>A
NR_036510.2:n.1063T>A