Canonical Allele Identifier: CA2645372101

Gene: UROD

Linked Data

• gnomAD v4: 1-45013826-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013826G>T , CM000663.2:g.45013826G>T	GRCh38
NC_000001.10:g.45479498G>T , CM000663.1:g.45479498G>T	GRCh37
NC_000001.9:g.45252085G>T	NCBI36
NG_007122.2:g.6669G>T
NG_033058.1:g.2530C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.474+35G>T MANE Select	ENSP00000246337.4:n.474+35G>T
ENST00000434478.6:c.528+35G>T	ENSP00000404489.2:n.528+35G>T
ENST00000491773.6:c.369+35G>T	ENSP00000498551.1:n.369+35G>T
ENST00000636293.1:c.474+35G>T	ENSP00000490710.1:n.474+35G>T
ENST00000636836.1:c.474+35G>T	ENSP00000490594.1:n.474+35G>T
ENST00000651476.1:c.369+35G>T	ENSP00000498668.1:n.369+35G>T
ENST00000652165.1:c.369+35G>T	ENSP00000498295.1:n.369+35G>T
ENST00000652287.1:c.411+35G>T	ENSP00000498413.1:n.411+35G>T
ENST00000652514.1:c.435+35G>T	ENSP00000498635.1:n.435+35G>T
ENST00000246337.8:c.474+35G>T	ENSP00000246337.4:n.474+35G>T
ENST00000428106.1:c.454+35G>T
ENST00000434478.5:c.411+35G>T	ENSP00000404489.1:n.411+35G>T
ENST00000460334.5:n.501+35G>T
ENST00000460906.5:n.526G>T
ENST00000462688.5:n.601+35G>T
ENST00000463092.5:n.905G>T
ENST00000469548.5:n.670+35G>T
ENST00000473012.1:n.521+35G>T
ENST00000478467.5:n.477+35G>T
ENST00000486699.5:n.594+35G>T
ENST00000490385.5:n.548+35G>T
ENST00000491300.5:n.593+35G>T
ENST00000491773.5:n.628+35G>T
ENST00000494399.5:n.614+35G>T
ENST00000496439.1:n.488G>T
NM_000374.4:c.474+35G>T	NP_000365.3:n.474+35G>T
NR_036510.1:n.657+35G>T
XM_005271169.1:c.258+35G>T	XP_005271226.1:n.258+35G>T
XM_005271170.1:c.258+35G>T	XP_005271227.1:n.258+35G>T
XM_011542080.1:c.411+35G>T	XP_011540382.1:n.411+35G>T
XM_011542081.1:c.306+35G>T	XP_011540383.1:n.306+35G>T
NM_000374.5:c.474+35G>T MANE Select	NP_000365.3:n.474+35G>T
NR_158184.1:n.555+35G>T
NR_158185.1:n.505+35G>T
NR_036510.2:n.536+35G>T