Canonical Allele Identifier: CA340120869

Gene: UROD

Linked Data

• dbSNP Id: rs753164437
• MyVariant Identifiers: chr1:g.45481073A>T (hg19) ; chr1:g.45015401A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015401A>T , CM000663.2:g.45015401A>T	GRCh38
NC_000001.10:g.45481073A>T , CM000663.1:g.45481073A>T	GRCh37
NC_000001.9:g.45253660A>T	NCBI36
NG_007122.2:g.8244A>T
NG_033058.1:g.955T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1007A>T MANE Select	ENSP00000246337.4:p.Asn336Ile
ENST00000491773.6:c.764A>T	ENSP00000498551.1:p.Asn255Ile
ENST00000636293.1:c.869A>T	ENSP00000490710.1:p.Asn290Ile
ENST00000636836.1:c.*43A>T	ENSP00000490594.1:n.*43A>T
ENST00000651476.1:c.902A>T	ENSP00000498668.1:p.Asn301Ile
ENST00000652165.1:c.764A>T	ENSP00000498295.1:p.Asn255Ile
ENST00000652287.1:c.944A>T	ENSP00000498413.1:p.Asn315Ile
ENST00000652514.1:c.968A>T	ENSP00000498635.1:n.968A>T
ENST00000246337.8:c.1007A>T	ENSP00000246337.4:p.Asn336Ile
ENST00000465678.1:n.752A>T
ENST00000472254.1:n.760A>T
ENST00000494399.5:n.1674A>T
NM_000374.4:c.1007A>T	NP_000365.3:p.Asn336Ile
NR_036510.1:n.1190A>T
XM_005271169.1:c.791A>T	XP_005271226.1:p.Asn264Ile
XM_005271170.1:c.791A>T	XP_005271227.1:p.Asn264Ile
XM_011542080.1:c.944A>T	XP_011540382.1:p.Asn315Ile
XM_011542081.1:c.839A>T	XP_011540383.1:p.Asn280Ile
NM_000374.5:c.1007A>T MANE Select	NP_000365.3:p.Asn336Ile
NR_158184.1:n.1088A>T
NR_158185.1:n.1038A>T
NR_036510.2:n.1069A>T