Canonical Allele Identifier: CA2843004227

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015298G>A , CM000663.2:g.45015298G>A	GRCh38
NC_000001.10:g.45480970G>A , CM000663.1:g.45480970G>A	GRCh37
NC_000001.9:g.45253557G>A	NCBI36
NG_007122.2:g.8141G>A
NG_033058.1:g.1058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.943-39G>A MANE Select	ENSP00000246337.4:n.943-39G>A
ENST00000491773.6:c.700-39G>A	ENSP00000498551.1:n.700-39G>A
ENST00000636293.1:c.805-39G>A	ENSP00000490710.1:n.805-39G>A
ENST00000636836.1:c.876-39G>A	ENSP00000490594.1:n.876-39G>A
ENST00000651476.1:c.838-39G>A	ENSP00000498668.1:n.838-39G>A
ENST00000652165.1:c.700-39G>A	ENSP00000498295.1:n.700-39G>A
ENST00000652287.1:c.880-39G>A	ENSP00000498413.1:n.880-39G>A
ENST00000652514.1:c.904-39G>A	ENSP00000498635.1:n.904-39G>A
ENST00000246337.8:c.943-39G>A	ENSP00000246337.4:n.943-39G>A
ENST00000465678.1:n.649G>A
ENST00000466193.1:n.469-39G>A
ENST00000472254.1:n.696-39G>A
ENST00000494399.5:n.1610-39G>A
NM_000374.4:c.943-39G>A	NP_000365.3:n.943-39G>A
NR_036510.1:n.1126-39G>A
XM_005271169.1:c.727-39G>A	XP_005271226.1:n.727-39G>A
XM_005271170.1:c.727-39G>A	XP_005271227.1:n.727-39G>A
XM_011542080.1:c.880-39G>A	XP_011540382.1:n.880-39G>A
XM_011542081.1:c.775-39G>A	XP_011540383.1:n.775-39G>A
NM_000374.5:c.943-39G>A MANE Select	NP_000365.3:n.943-39G>A
NR_158184.1:n.1024-39G>A
NR_158185.1:n.974-39G>A
NR_036510.2:n.1005-39G>A