Canonical Allele Identifier: CA340118255

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45479629G>T (hg19) ; chr1:g.45013957G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013957G>T , CM000663.2:g.45013957G>T	GRCh38
NC_000001.10:g.45479629G>T , CM000663.1:g.45479629G>T	GRCh37
NC_000001.9:g.45252216G>T	NCBI36
NG_007122.2:g.6800G>T
NG_033058.1:g.2399C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.523G>T MANE Select	ENSP00000246337.4:p.Ala175Ser
ENST00000434478.6:c.577G>T	ENSP00000404489.2:p.Ala193Ser
ENST00000491773.6:c.418G>T	ENSP00000498551.1:p.Ala140Ser
ENST00000636293.1:c.523G>T	ENSP00000490710.1:p.Ala175Ser
ENST00000636836.1:c.523G>T	ENSP00000490594.1:p.Ala175Ser
ENST00000651476.1:c.418G>T	ENSP00000498668.1:p.Ala140Ser
ENST00000652165.1:c.418G>T	ENSP00000498295.1:p.Ala140Ser
ENST00000652287.1:c.460G>T	ENSP00000498413.1:p.Ala154Ser
ENST00000652514.1:c.484G>T	ENSP00000498635.1:n.484G>T
ENST00000246337.8:c.523G>T	ENSP00000246337.4:p.Ala175Ser
ENST00000428106.1:c.454+166G>T
ENST00000434478.5:c.460G>T	ENSP00000404489.1:p.Ala154Ser
ENST00000460334.5:n.550G>T
ENST00000460906.5:n.657G>T
ENST00000462688.5:n.650G>T
ENST00000469548.5:n.719G>T
ENST00000473012.1:n.570G>T
ENST00000478467.5:n.526G>T
ENST00000486699.5:n.643G>T
ENST00000490385.5:n.597G>T
ENST00000491300.5:n.642G>T
ENST00000494399.5:n.663G>T
ENST00000496439.1:n.619G>T
NM_000374.4:c.523G>T	NP_000365.3:p.Ala175Ser
NR_036510.1:n.706G>T
XM_005271169.1:c.307G>T	XP_005271226.1:p.Ala103Ser
XM_005271170.1:c.307G>T	XP_005271227.1:p.Ala103Ser
XM_011542080.1:c.460G>T	XP_011540382.1:p.Ala154Ser
XM_011542081.1:c.355G>T	XP_011540383.1:p.Ala119Ser
NM_000374.5:c.523G>T MANE Select	NP_000365.3:p.Ala175Ser
NR_158184.1:n.604G>T
NR_158185.1:n.554G>T
NR_036510.2:n.585G>T