Canonical Allele Identifier: CA2473585704

Gene: UROD

Linked Data

• dbSNP Id: rs1644837904
• gnomAD v4: 1-45015019-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015019G>T , CM000663.2:g.45015019G>T	GRCh38
NC_000001.10:g.45480691G>T , CM000663.1:g.45480691G>T	GRCh37
NC_000001.9:g.45253278G>T	NCBI36
NG_007122.2:g.7862G>T
NG_033058.1:g.1337C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.942+13G>T MANE Select	ENSP00000246337.4:n.942+13G>T
ENST00000491773.6:c.699+13G>T	ENSP00000498551.1:n.699+13G>T
ENST00000636293.1:c.804+13G>T	ENSP00000490710.1:n.804+13G>T
ENST00000636836.1:c.875+183G>T	ENSP00000490594.1:n.875+183G>T
ENST00000651476.1:c.837+13G>T	ENSP00000498668.1:n.837+13G>T
ENST00000652165.1:c.699+13G>T	ENSP00000498295.1:n.699+13G>T
ENST00000652287.1:c.879+13G>T	ENSP00000498413.1:n.879+13G>T
ENST00000652514.1:c.903+13G>T	ENSP00000498635.1:n.903+13G>T
ENST00000246337.8:c.942+13G>T	ENSP00000246337.4:n.942+13G>T
ENST00000465678.1:n.370G>T
ENST00000466193.1:n.468+13G>T
ENST00000472254.1:n.695+13G>T
ENST00000494399.5:n.1609+13G>T
NM_000374.4:c.942+13G>T	NP_000365.3:n.942+13G>T
NR_036510.1:n.1125+13G>T
XM_005271169.1:c.726+13G>T	XP_005271226.1:n.726+13G>T
XM_005271170.1:c.726+13G>T	XP_005271227.1:n.726+13G>T
XM_011542080.1:c.879+13G>T	XP_011540382.1:n.879+13G>T
XM_011542081.1:c.774+13G>T	XP_011540383.1:n.774+13G>T
NM_000374.5:c.942+13G>T MANE Select	NP_000365.3:n.942+13G>T
NR_158184.1:n.1023+13G>T
NR_158185.1:n.973+13G>T
NR_036510.2:n.1004+13G>T