Canonical Allele Identifier: CA340120847

Gene: UROD

Linked Data

• gnomAD v4: 1-45015395-T-C
• MyVariant Identifiers: chr1:g.45481067T>C (hg19) ; chr1:g.45015395T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015395T>C , CM000663.2:g.45015395T>C	GRCh38
NC_000001.10:g.45481067T>C , CM000663.1:g.45481067T>C	GRCh37
NC_000001.9:g.45253654T>C	NCBI36
NG_007122.2:g.8238T>C
NG_033058.1:g.961A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1001T>C MANE Select	ENSP00000246337.4:p.Ile334Thr
ENST00000491773.6:c.758T>C	ENSP00000498551.1:p.Ile253Thr
ENST00000636293.1:c.863T>C	ENSP00000490710.1:p.Ile288Thr
ENST00000636836.1:c.*37T>C	ENSP00000490594.1:n.*37T>C
ENST00000651476.1:c.896T>C	ENSP00000498668.1:p.Ile299Thr
ENST00000652165.1:c.758T>C	ENSP00000498295.1:p.Ile253Thr
ENST00000652287.1:c.938T>C	ENSP00000498413.1:p.Ile313Thr
ENST00000652514.1:c.962T>C	ENSP00000498635.1:n.962T>C
ENST00000246337.8:c.1001T>C	ENSP00000246337.4:p.Ile334Thr
ENST00000465678.1:n.746T>C
ENST00000472254.1:n.754T>C
ENST00000494399.5:n.1668T>C
NM_000374.4:c.1001T>C	NP_000365.3:p.Ile334Thr
NR_036510.1:n.1184T>C
XM_005271169.1:c.785T>C	XP_005271226.1:p.Ile262Thr
XM_005271170.1:c.785T>C	XP_005271227.1:p.Ile262Thr
XM_011542080.1:c.938T>C	XP_011540382.1:p.Ile313Thr
XM_011542081.1:c.833T>C	XP_011540383.1:p.Ile278Thr
NM_000374.5:c.1001T>C MANE Select	NP_000365.3:p.Ile334Thr
NR_158184.1:n.1082T>C
NR_158185.1:n.1032T>C
NR_036510.2:n.1063T>C