Canonical Allele Identifier: CA825268

Gene: UROD

Linked Data

• dbSNP Id: rs773864521
• ExAC: 1:45479559 C / A
• gnomAD v2: 1-45479559-C-A
• gnomAD v4: 1-45013887-C-A
• MyVariant Identifiers: chr1:g.45479559C>A (hg19) ; chr1:g.45013887C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013887C>A , CM000663.2:g.45013887C>A	GRCh38
NC_000001.10:g.45479559C>A , CM000663.1:g.45479559C>A	GRCh37
NC_000001.9:g.45252146C>A	NCBI36
NG_007122.2:g.6730C>A
NG_033058.1:g.2469G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.475-22C>A MANE Select	ENSP00000246337.4:n.475-22C>A
ENST00000434478.6:c.529-22C>A	ENSP00000404489.2:n.529-22C>A
ENST00000491773.6:c.370-22C>A	ENSP00000498551.1:n.370-22C>A
ENST00000636293.1:c.475-22C>A	ENSP00000490710.1:n.475-22C>A
ENST00000636836.1:c.475-22C>A	ENSP00000490594.1:n.475-22C>A
ENST00000651476.1:c.370-22C>A	ENSP00000498668.1:n.370-22C>A
ENST00000652165.1:c.370-22C>A	ENSP00000498295.1:n.370-22C>A
ENST00000652287.1:c.412-22C>A	ENSP00000498413.1:n.412-22C>A
ENST00000652514.1:c.436-22C>A	ENSP00000498635.1:n.436-22C>A
ENST00000246337.8:c.475-22C>A	ENSP00000246337.4:n.475-22C>A
ENST00000428106.1:c.454+96C>A
ENST00000434478.5:c.412-22C>A	ENSP00000404489.1:n.412-22C>A
ENST00000460334.5:n.502-22C>A
ENST00000460906.5:n.587C>A
ENST00000462688.5:n.602-22C>A
ENST00000463092.5:n.966C>A
ENST00000469548.5:n.671-22C>A
ENST00000473012.1:n.522-22C>A
ENST00000478467.5:n.478-22C>A
ENST00000486699.5:n.595-22C>A
ENST00000490385.5:n.549-22C>A
ENST00000491300.5:n.594-22C>A
ENST00000491773.5:n.629-22C>A
ENST00000494399.5:n.615-22C>A
ENST00000496439.1:n.549C>A
NM_000374.4:c.475-22C>A	NP_000365.3:n.475-22C>A
NR_036510.1:n.658-22C>A
XM_005271169.1:c.259-22C>A	XP_005271226.1:n.259-22C>A
XM_005271170.1:c.259-22C>A	XP_005271227.1:n.259-22C>A
XM_011542080.1:c.412-22C>A	XP_011540382.1:n.412-22C>A
XM_011542081.1:c.307-22C>A	XP_011540383.1:n.307-22C>A
NM_000374.5:c.475-22C>A MANE Select	NP_000365.3:n.475-22C>A
NR_158184.1:n.556-22C>A
NR_158185.1:n.506-22C>A
NR_036510.2:n.537-22C>A