Canonical Allele Identifier: CA340120860

Gene: UROD

Linked Data

• dbSNP Id: rs1644843650
• gnomAD v3: 1-45015398-C-T
• gnomAD v4: 1-45015398-C-T
• MyVariant Identifiers: chr1:g.45481070C>T (hg19) ; chr1:g.45015398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015398C>T , CM000663.2:g.45015398C>T	GRCh38
NC_000001.10:g.45481070C>T , CM000663.1:g.45481070C>T	GRCh37
NC_000001.9:g.45253657C>T	NCBI36
NG_007122.2:g.8241C>T
NG_033058.1:g.958G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1004C>T MANE Select	ENSP00000246337.4:p.Ala335Val
ENST00000491773.6:c.761C>T	ENSP00000498551.1:p.Ala254Val
ENST00000636293.1:c.866C>T	ENSP00000490710.1:p.Ala289Val
ENST00000636836.1:c.*40C>T	ENSP00000490594.1:n.*40C>T
ENST00000651476.1:c.899C>T	ENSP00000498668.1:p.Ala300Val
ENST00000652165.1:c.761C>T	ENSP00000498295.1:p.Ala254Val
ENST00000652287.1:c.941C>T	ENSP00000498413.1:p.Ala314Val
ENST00000652514.1:c.965C>T	ENSP00000498635.1:n.965C>T
ENST00000246337.8:c.1004C>T	ENSP00000246337.4:p.Ala335Val
ENST00000465678.1:n.749C>T
ENST00000472254.1:n.757C>T
ENST00000494399.5:n.1671C>T
NM_000374.4:c.1004C>T	NP_000365.3:p.Ala335Val
NR_036510.1:n.1187C>T
XM_005271169.1:c.788C>T	XP_005271226.1:p.Ala263Val
XM_005271170.1:c.788C>T	XP_005271227.1:p.Ala263Val
XM_011542080.1:c.941C>T	XP_011540382.1:p.Ala314Val
XM_011542081.1:c.836C>T	XP_011540383.1:p.Ala279Val
NM_000374.5:c.1004C>T MANE Select	NP_000365.3:p.Ala335Val
NR_158184.1:n.1085C>T
NR_158185.1:n.1035C>T
NR_036510.2:n.1066C>T