Canonical Allele Identifier: CA340118228

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45479617T>C (hg19) ; chr1:g.45013945T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013945T>C , CM000663.2:g.45013945T>C	GRCh38
NC_000001.10:g.45479617T>C , CM000663.1:g.45479617T>C	GRCh37
NC_000001.9:g.45252204T>C	NCBI36
NG_007122.2:g.6788T>C
NG_033058.1:g.2411A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.511T>C MANE Select	ENSP00000246337.4:p.Ser171Pro
ENST00000434478.6:c.565T>C	ENSP00000404489.2:p.Ser189Pro
ENST00000491773.6:c.406T>C	ENSP00000498551.1:p.Ser136Pro
ENST00000636293.1:c.511T>C	ENSP00000490710.1:p.Ser171Pro
ENST00000636836.1:c.511T>C	ENSP00000490594.1:p.Ser171Pro
ENST00000651476.1:c.406T>C	ENSP00000498668.1:p.Ser136Pro
ENST00000652165.1:c.406T>C	ENSP00000498295.1:p.Ser136Pro
ENST00000652287.1:c.448T>C	ENSP00000498413.1:p.Ser150Pro
ENST00000652514.1:c.472T>C	ENSP00000498635.1:n.472T>C
ENST00000246337.8:c.511T>C	ENSP00000246337.4:p.Ser171Pro
ENST00000428106.1:c.454+154T>C
ENST00000434478.5:c.448T>C	ENSP00000404489.1:p.Ser150Pro
ENST00000460334.5:n.538T>C
ENST00000460906.5:n.645T>C
ENST00000462688.5:n.638T>C
ENST00000469548.5:n.707T>C
ENST00000473012.1:n.558T>C
ENST00000478467.5:n.514T>C
ENST00000486699.5:n.631T>C
ENST00000490385.5:n.585T>C
ENST00000491300.5:n.630T>C
ENST00000491773.5:n.665T>C
ENST00000494399.5:n.651T>C
ENST00000496439.1:n.607T>C
NM_000374.4:c.511T>C	NP_000365.3:p.Ser171Pro
NR_036510.1:n.694T>C
XM_005271169.1:c.295T>C	XP_005271226.1:p.Ser99Pro
XM_005271170.1:c.295T>C	XP_005271227.1:p.Ser99Pro
XM_011542080.1:c.448T>C	XP_011540382.1:p.Ser150Pro
XM_011542081.1:c.343T>C	XP_011540383.1:p.Ser115Pro
NM_000374.5:c.511T>C MANE Select	NP_000365.3:p.Ser171Pro
NR_158184.1:n.592T>C
NR_158185.1:n.542T>C
NR_036510.2:n.573T>C