Canonical Allele Identifier: CA340120843

Gene: UROD

Linked Data

• gnomAD v4: 1-45015394-A-G
• MyVariant Identifiers: chr1:g.45481066A>G (hg19) ; chr1:g.45015394A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015394A>G , CM000663.2:g.45015394A>G	GRCh38
NC_000001.10:g.45481066A>G , CM000663.1:g.45481066A>G	GRCh37
NC_000001.9:g.45253653A>G	NCBI36
NG_007122.2:g.8237A>G
NG_033058.1:g.962T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1000A>G MANE Select	ENSP00000246337.4:p.Ile334Val
ENST00000491773.6:c.757A>G	ENSP00000498551.1:p.Ile253Val
ENST00000636293.1:c.862A>G	ENSP00000490710.1:p.Ile288Val
ENST00000636836.1:c.*36A>G	ENSP00000490594.1:n.*36A>G
ENST00000651476.1:c.895A>G	ENSP00000498668.1:p.Ile299Val
ENST00000652165.1:c.757A>G	ENSP00000498295.1:p.Ile253Val
ENST00000652287.1:c.937A>G	ENSP00000498413.1:p.Ile313Val
ENST00000652514.1:c.961A>G	ENSP00000498635.1:n.961A>G
ENST00000246337.8:c.1000A>G	ENSP00000246337.4:p.Ile334Val
ENST00000465678.1:n.745A>G
ENST00000472254.1:n.753A>G
ENST00000494399.5:n.1667A>G
NM_000374.4:c.1000A>G	NP_000365.3:p.Ile334Val
NR_036510.1:n.1183A>G
XM_005271169.1:c.784A>G	XP_005271226.1:p.Ile262Val
XM_005271170.1:c.784A>G	XP_005271227.1:p.Ile262Val
XM_011542080.1:c.937A>G	XP_011540382.1:p.Ile313Val
XM_011542081.1:c.832A>G	XP_011540383.1:p.Ile278Val
NM_000374.5:c.1000A>G MANE Select	NP_000365.3:p.Ile334Val
NR_158184.1:n.1081A>G
NR_158185.1:n.1031A>G
NR_036510.2:n.1062A>G