Canonical Allele Identifier: CA1141580773

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013928T= , CM000663.2:g.45013928T=	GRCh38
NC_000001.10:g.45479600T= , CM000663.1:g.45479600T=	GRCh37
NC_000001.9:g.45252187T=	NCBI36
NG_007122.2:g.6771T=
NG_033058.1:g.2428A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.494T= MANE Select	ENSP00000246337.4:p.Met165=
ENST00000434478.6:c.548T=	ENSP00000404489.2:p.Met183=
ENST00000491773.6:c.389T=	ENSP00000498551.1:p.Met130=
ENST00000636293.1:c.494T=	ENSP00000490710.1:p.Met165=
ENST00000636836.1:c.494T=	ENSP00000490594.1:p.Met165=
ENST00000651476.1:c.389T=	ENSP00000498668.1:p.Met130=
ENST00000652165.1:c.389T=	ENSP00000498295.1:p.Met130=
ENST00000652287.1:c.431T=	ENSP00000498413.1:p.Met144=
ENST00000652514.1:c.455T=	ENSP00000498635.1:n.455T=
ENST00000246337.8:c.494T=	ENSP00000246337.4:p.Met165=
ENST00000428106.1:c.454+137T=
ENST00000434478.5:c.431T=	ENSP00000404489.1:p.Met144=
ENST00000460334.5:n.521T=
ENST00000460906.5:n.628T=
ENST00000462688.5:n.621T=
ENST00000469548.5:n.690T=
ENST00000473012.1:n.541T=
ENST00000478467.5:n.497T=
ENST00000486699.5:n.614T=
ENST00000490385.5:n.568T=
ENST00000491300.5:n.613T=
ENST00000491773.5:n.648T=
ENST00000494399.5:n.634T=
ENST00000496439.1:n.590T=
NM_000374.4:c.494T=	NP_000365.3:p.Met165=
NR_036510.1:n.677T=
XM_005271169.1:c.278T=	XP_005271226.1:p.Met93=
XM_005271170.1:c.278T=	XP_005271227.1:p.Met93=
XM_011542080.1:c.431T=	XP_011540382.1:p.Met144=
XM_011542081.1:c.326T=	XP_011540383.1:p.Met109=
NM_000374.5:c.494T= MANE Select	NP_000365.3:p.Met165=
NR_158184.1:n.575T=
NR_158185.1:n.525T=
NR_036510.2:n.556T=