Canonical Allele Identifier: CA825427

Gene: UROD

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015501G>A , CM000663.2:g.45015501G>A	GRCh38
NC_000001.10:g.45481173G>A , CM000663.1:g.45481173G>A	GRCh37
NC_000001.9:g.45253760G>A	NCBI36
NG_007122.2:g.8344G>A
NG_033058.1:g.855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.*3G>A MANE Select	ENSP00000246337.4:n.*3G>A
ENST00000491773.6:c.*3G>A	ENSP00000498551.1:n.*3G>A
ENST00000636293.1:c.*3G>A	ENSP00000490710.1:n.*3G>A
ENST00000636836.1:c.*143G>A	ENSP00000490594.1:n.*143G>A
ENST00000651476.1:c.*3G>A	ENSP00000498668.1:n.*3G>A
ENST00000652165.1:c.*3G>A	ENSP00000498295.1:n.*3G>A
ENST00000652287.1:c.*3G>A	ENSP00000498413.1:n.*3G>A
ENST00000652514.1:c.1068G>A	ENSP00000498635.1:n.1068G>A
ENST00000246337.8:c.*3G>A	ENSP00000246337.4:n.*3G>A
ENST00000472254.1:n.860G>A
ENST00000494399.5:n.1774G>A
NM_000374.4:c.*3G>A	NP_000365.3:n.*3G>A
NR_036510.1:n.1290G>A
XM_005271169.1:c.*3G>A	XP_005271226.1:n.*3G>A
XM_005271170.1:c.*3G>A	XP_005271227.1:n.*3G>A
XM_011542080.1:c.*3G>A	XP_011540382.1:n.*3G>A
XM_011542081.1:c.*3G>A	XP_011540383.1:n.*3G>A
NM_000374.5:c.*3G>A MANE Select	NP_000365.3:n.*3G>A
NR_158184.1:n.1188G>A
NR_158185.1:n.1138G>A
NR_036510.2:n.1169G>A