Canonical Allele Identifier: CA2645372112

Gene: UROD

Linked Data

• gnomAD v4: 1-45013865-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013865G>T , CM000663.2:g.45013865G>T	GRCh38
NC_000001.10:g.45479537G>T , CM000663.1:g.45479537G>T	GRCh37
NC_000001.9:g.45252124G>T	NCBI36
NG_007122.2:g.6708G>T
NG_033058.1:g.2491C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.475-44G>T MANE Select	ENSP00000246337.4:n.475-44G>T
ENST00000434478.6:c.529-44G>T	ENSP00000404489.2:n.529-44G>T
ENST00000491773.6:c.370-44G>T	ENSP00000498551.1:n.370-44G>T
ENST00000636293.1:c.475-44G>T	ENSP00000490710.1:n.475-44G>T
ENST00000636836.1:c.475-44G>T	ENSP00000490594.1:n.475-44G>T
ENST00000651476.1:c.370-44G>T	ENSP00000498668.1:n.370-44G>T
ENST00000652165.1:c.370-44G>T	ENSP00000498295.1:n.370-44G>T
ENST00000652287.1:c.412-44G>T	ENSP00000498413.1:n.412-44G>T
ENST00000652514.1:c.436-44G>T	ENSP00000498635.1:n.436-44G>T
ENST00000246337.8:c.475-44G>T	ENSP00000246337.4:n.475-44G>T
ENST00000428106.1:c.454+74G>T
ENST00000434478.5:c.412-44G>T	ENSP00000404489.1:n.412-44G>T
ENST00000460334.5:n.502-44G>T
ENST00000460906.5:n.565G>T
ENST00000462688.5:n.602-44G>T
ENST00000463092.5:n.944G>T
ENST00000469548.5:n.671-44G>T
ENST00000473012.1:n.522-44G>T
ENST00000478467.5:n.478-44G>T
ENST00000486699.5:n.595-44G>T
ENST00000490385.5:n.549-44G>T
ENST00000491300.5:n.594-44G>T
ENST00000491773.5:n.629-44G>T
ENST00000494399.5:n.615-44G>T
ENST00000496439.1:n.527G>T
NM_000374.4:c.475-44G>T	NP_000365.3:n.475-44G>T
NR_036510.1:n.658-44G>T
XM_005271169.1:c.259-44G>T	XP_005271226.1:n.259-44G>T
XM_005271170.1:c.259-44G>T	XP_005271227.1:n.259-44G>T
XM_011542080.1:c.412-44G>T	XP_011540382.1:n.412-44G>T
XM_011542081.1:c.307-44G>T	XP_011540383.1:n.307-44G>T
NM_000374.5:c.475-44G>T MANE Select	NP_000365.3:n.475-44G>T
NR_158184.1:n.556-44G>T
NR_158185.1:n.506-44G>T
NR_036510.2:n.537-44G>T