Canonical Allele Identifier: CA736140879

Gene: UROD

Linked Data

• ClinVar Variation Id: 1999835
• ClinVar RCV Id: RCV002819896
• dbSNP Id: rs1163129371
• gnomAD v3: 1-45013799-G-A
• gnomAD v4: 1-45013799-G-A
• MyVariant Identifiers: chr1:g.45479471G>A (hg19) ; chr1:g.45013799G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013799G>A , CM000663.2:g.45013799G>A	GRCh38
NC_000001.10:g.45479471G>A , CM000663.1:g.45479471G>A	GRCh37
NC_000001.9:g.45252058G>A	NCBI36
NG_007122.2:g.6642G>A
NG_033058.1:g.2557C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.474+8G>A MANE Select	ENSP00000246337.4:n.474+8G>A
ENST00000434478.6:c.528+8G>A	ENSP00000404489.2:n.528+8G>A
ENST00000491773.6:c.369+8G>A	ENSP00000498551.1:n.369+8G>A
ENST00000636293.1:c.474+8G>A	ENSP00000490710.1:n.474+8G>A
ENST00000636836.1:c.474+8G>A	ENSP00000490594.1:n.474+8G>A
ENST00000651476.1:c.369+8G>A	ENSP00000498668.1:n.369+8G>A
ENST00000652165.1:c.369+8G>A	ENSP00000498295.1:n.369+8G>A
ENST00000652287.1:c.411+8G>A	ENSP00000498413.1:n.411+8G>A
ENST00000652514.1:c.435+8G>A	ENSP00000498635.1:n.435+8G>A
ENST00000246337.8:c.474+8G>A	ENSP00000246337.4:n.474+8G>A
ENST00000428106.1:c.454+8G>A
ENST00000434478.5:c.411+8G>A	ENSP00000404489.1:n.411+8G>A
ENST00000460334.5:n.501+8G>A
ENST00000460906.5:n.499G>A
ENST00000462688.5:n.601+8G>A
ENST00000463092.5:n.878G>A
ENST00000469548.5:n.670+8G>A
ENST00000473012.1:n.521+8G>A
ENST00000478467.5:n.477+8G>A
ENST00000486699.5:n.594+8G>A
ENST00000490385.5:n.548+8G>A
ENST00000491300.5:n.593+8G>A
ENST00000491773.5:n.628+8G>A
ENST00000494399.5:n.614+8G>A
ENST00000496439.1:n.461G>A
NM_000374.4:c.474+8G>A	NP_000365.3:n.474+8G>A
NR_036510.1:n.657+8G>A
XM_005271169.1:c.258+8G>A	XP_005271226.1:n.258+8G>A
XM_005271170.1:c.258+8G>A	XP_005271227.1:n.258+8G>A
XM_011542080.1:c.411+8G>A	XP_011540382.1:n.411+8G>A
XM_011542081.1:c.306+8G>A	XP_011540383.1:n.306+8G>A
NM_000374.5:c.474+8G>A MANE Select	NP_000365.3:n.474+8G>A
NR_158184.1:n.555+8G>A
NR_158185.1:n.505+8G>A
NR_036510.2:n.536+8G>A