Canonical Allele Identifier: CA2645372105

Gene: UROD

Linked Data

• gnomAD v4: 1-45013852-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013852A>T , CM000663.2:g.45013852A>T	GRCh38
NC_000001.10:g.45479524A>T , CM000663.1:g.45479524A>T	GRCh37
NC_000001.9:g.45252111A>T	NCBI36
NG_007122.2:g.6695A>T
NG_033058.1:g.2504T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.475-57A>T MANE Select	ENSP00000246337.4:n.475-57A>T
ENST00000434478.6:c.529-57A>T	ENSP00000404489.2:n.529-57A>T
ENST00000491773.6:c.370-57A>T	ENSP00000498551.1:n.370-57A>T
ENST00000636293.1:c.475-57A>T	ENSP00000490710.1:n.475-57A>T
ENST00000636836.1:c.475-57A>T	ENSP00000490594.1:n.475-57A>T
ENST00000651476.1:c.370-57A>T	ENSP00000498668.1:n.370-57A>T
ENST00000652165.1:c.370-57A>T	ENSP00000498295.1:n.370-57A>T
ENST00000652287.1:c.412-57A>T	ENSP00000498413.1:n.412-57A>T
ENST00000652514.1:c.436-57A>T	ENSP00000498635.1:n.436-57A>T
ENST00000246337.8:c.475-57A>T	ENSP00000246337.4:n.475-57A>T
ENST00000428106.1:c.454+61A>T
ENST00000434478.5:c.412-57A>T	ENSP00000404489.1:n.412-57A>T
ENST00000460334.5:n.502-57A>T
ENST00000460906.5:n.552A>T
ENST00000462688.5:n.602-57A>T
ENST00000463092.5:n.931A>T
ENST00000469548.5:n.671-57A>T
ENST00000473012.1:n.522-57A>T
ENST00000478467.5:n.478-57A>T
ENST00000486699.5:n.595-57A>T
ENST00000490385.5:n.549-57A>T
ENST00000491300.5:n.594-57A>T
ENST00000491773.5:n.629-57A>T
ENST00000494399.5:n.615-57A>T
ENST00000496439.1:n.514A>T
NM_000374.4:c.475-57A>T	NP_000365.3:n.475-57A>T
NR_036510.1:n.658-57A>T
XM_005271169.1:c.259-57A>T	XP_005271226.1:n.259-57A>T
XM_005271170.1:c.259-57A>T	XP_005271227.1:n.259-57A>T
XM_011542080.1:c.412-57A>T	XP_011540382.1:n.412-57A>T
XM_011542081.1:c.307-57A>T	XP_011540383.1:n.307-57A>T
NM_000374.5:c.475-57A>T MANE Select	NP_000365.3:n.475-57A>T
NR_158184.1:n.556-57A>T
NR_158185.1:n.506-57A>T
NR_036510.2:n.537-57A>T