Canonical Allele Identifier: CA2645372090

Gene: UROD

Linked Data

• gnomAD v4: 1-45013798-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013798T>C , CM000663.2:g.45013798T>C	GRCh38
NC_000001.10:g.45479470T>C , CM000663.1:g.45479470T>C	GRCh37
NC_000001.9:g.45252057T>C	NCBI36
NG_007122.2:g.6641T>C
NG_033058.1:g.2558A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.474+7T>C MANE Select	ENSP00000246337.4:n.474+7T>C
ENST00000434478.6:c.528+7T>C	ENSP00000404489.2:n.528+7T>C
ENST00000491773.6:c.369+7T>C	ENSP00000498551.1:n.369+7T>C
ENST00000636293.1:c.474+7T>C	ENSP00000490710.1:n.474+7T>C
ENST00000636836.1:c.474+7T>C	ENSP00000490594.1:n.474+7T>C
ENST00000651476.1:c.369+7T>C	ENSP00000498668.1:n.369+7T>C
ENST00000652165.1:c.369+7T>C	ENSP00000498295.1:n.369+7T>C
ENST00000652287.1:c.411+7T>C	ENSP00000498413.1:n.411+7T>C
ENST00000652514.1:c.435+7T>C	ENSP00000498635.1:n.435+7T>C
ENST00000246337.8:c.474+7T>C	ENSP00000246337.4:n.474+7T>C
ENST00000428106.1:c.454+7T>C
ENST00000434478.5:c.411+7T>C	ENSP00000404489.1:n.411+7T>C
ENST00000460334.5:n.501+7T>C
ENST00000460906.5:n.498T>C
ENST00000462688.5:n.601+7T>C
ENST00000463092.5:n.877T>C
ENST00000469548.5:n.670+7T>C
ENST00000473012.1:n.521+7T>C
ENST00000478467.5:n.477+7T>C
ENST00000486699.5:n.594+7T>C
ENST00000490385.5:n.548+7T>C
ENST00000491300.5:n.593+7T>C
ENST00000491773.5:n.628+7T>C
ENST00000494399.5:n.614+7T>C
ENST00000496439.1:n.460T>C
NM_000374.4:c.474+7T>C	NP_000365.3:n.474+7T>C
NR_036510.1:n.657+7T>C
XM_005271169.1:c.258+7T>C	XP_005271226.1:n.258+7T>C
XM_005271170.1:c.258+7T>C	XP_005271227.1:n.258+7T>C
XM_011542080.1:c.411+7T>C	XP_011540382.1:n.411+7T>C
XM_011542081.1:c.306+7T>C	XP_011540383.1:n.306+7T>C
NM_000374.5:c.474+7T>C MANE Select	NP_000365.3:n.474+7T>C
NR_158184.1:n.555+7T>C
NR_158185.1:n.505+7T>C
NR_036510.2:n.536+7T>C