Canonical Allele Identifier: CA340118095

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45479444T>A (hg19) ; chr1:g.45013772T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013772T>A , CM000663.2:g.45013772T>A	GRCh38
NC_000001.10:g.45479444T>A , CM000663.1:g.45479444T>A	GRCh37
NC_000001.9:g.45252031T>A	NCBI36
NG_007122.2:g.6615T>A
NG_033058.1:g.2584A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.455T>A MANE Select	ENSP00000246337.4:p.Ile152Asn
ENST00000434478.6:c.509T>A	ENSP00000404489.2:p.Ile170Asn
ENST00000491773.6:c.350T>A	ENSP00000498551.1:p.Ile117Asn
ENST00000636293.1:c.455T>A	ENSP00000490710.1:p.Ile152Asn
ENST00000636836.1:c.455T>A	ENSP00000490594.1:p.Ile152Asn
ENST00000651476.1:c.350T>A	ENSP00000498668.1:p.Ile117Asn
ENST00000652165.1:c.350T>A	ENSP00000498295.1:p.Ile117Asn
ENST00000652287.1:c.392T>A	ENSP00000498413.1:p.Ile131Asn
ENST00000652514.1:c.416T>A	ENSP00000498635.1:n.416T>A
ENST00000246337.8:c.455T>A	ENSP00000246337.4:p.Ile152Asn
ENST00000428106.1:c.435T>A
ENST00000434478.5:c.392T>A	ENSP00000404489.1:p.Ile131Asn
ENST00000460334.5:n.482T>A
ENST00000460906.5:n.472T>A
ENST00000462688.5:n.582T>A
ENST00000463092.5:n.851T>A
ENST00000469548.5:n.651T>A
ENST00000473012.1:n.502T>A
ENST00000478467.5:n.458T>A
ENST00000486699.5:n.575T>A
ENST00000490385.5:n.529T>A
ENST00000491300.5:n.574T>A
ENST00000491773.5:n.609T>A
ENST00000494399.5:n.595T>A
ENST00000496439.1:n.434T>A
NM_000374.4:c.455T>A	NP_000365.3:p.Ile152Asn
NR_036510.1:n.638T>A
XM_005271169.1:c.239T>A	XP_005271226.1:p.Ile80Asn
XM_005271170.1:c.239T>A	XP_005271227.1:p.Ile80Asn
XM_011542080.1:c.392T>A	XP_011540382.1:p.Ile131Asn
XM_011542081.1:c.287T>A	XP_011540383.1:p.Ile96Asn
NM_000374.5:c.455T>A MANE Select	NP_000365.3:p.Ile152Asn
NR_158184.1:n.536T>A
NR_158185.1:n.486T>A
NR_036510.2:n.517T>A