Canonical Allele Identifier: CA1001201788

Gene: UROD

Linked Data

• dbSNP Id: rs1644825865
• gnomAD v3: 1-45013810-G-C
• gnomAD v4: 1-45013810-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013810G>C , CM000663.2:g.45013810G>C	GRCh38
NC_000001.10:g.45479482G>C , CM000663.1:g.45479482G>C	GRCh37
NC_000001.9:g.45252069G>C	NCBI36
NG_007122.2:g.6653G>C
NG_033058.1:g.2546C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.474+19G>C MANE Select	ENSP00000246337.4:n.474+19G>C
ENST00000434478.6:c.528+19G>C	ENSP00000404489.2:n.528+19G>C
ENST00000491773.6:c.369+19G>C	ENSP00000498551.1:n.369+19G>C
ENST00000636293.1:c.474+19G>C	ENSP00000490710.1:n.474+19G>C
ENST00000636836.1:c.474+19G>C	ENSP00000490594.1:n.474+19G>C
ENST00000651476.1:c.369+19G>C	ENSP00000498668.1:n.369+19G>C
ENST00000652165.1:c.369+19G>C	ENSP00000498295.1:n.369+19G>C
ENST00000652287.1:c.411+19G>C	ENSP00000498413.1:n.411+19G>C
ENST00000652514.1:c.435+19G>C	ENSP00000498635.1:n.435+19G>C
ENST00000246337.8:c.474+19G>C	ENSP00000246337.4:n.474+19G>C
ENST00000428106.1:c.454+19G>C
ENST00000434478.5:c.411+19G>C	ENSP00000404489.1:n.411+19G>C
ENST00000460334.5:n.501+19G>C
ENST00000460906.5:n.510G>C
ENST00000462688.5:n.601+19G>C
ENST00000463092.5:n.889G>C
ENST00000469548.5:n.670+19G>C
ENST00000473012.1:n.521+19G>C
ENST00000478467.5:n.477+19G>C
ENST00000486699.5:n.594+19G>C
ENST00000490385.5:n.548+19G>C
ENST00000491300.5:n.593+19G>C
ENST00000491773.5:n.628+19G>C
ENST00000494399.5:n.614+19G>C
ENST00000496439.1:n.472G>C
NM_000374.4:c.474+19G>C	NP_000365.3:n.474+19G>C
NR_036510.1:n.657+19G>C
XM_005271169.1:c.258+19G>C	XP_005271226.1:n.258+19G>C
XM_005271170.1:c.258+19G>C	XP_005271227.1:n.258+19G>C
XM_011542080.1:c.411+19G>C	XP_011540382.1:n.411+19G>C
XM_011542081.1:c.306+19G>C	XP_011540383.1:n.306+19G>C
NM_000374.5:c.474+19G>C MANE Select	NP_000365.3:n.474+19G>C
NR_158184.1:n.555+19G>C
NR_158185.1:n.505+19G>C
NR_036510.2:n.536+19G>C