Canonical Allele Identifier: CA417698717

Gene: UROD

Linked Data

• dbSNP Id: rs1230341916
• gnomAD v2: 1-45481071-C-T
• gnomAD v4: 1-45015399-C-T
• MyVariant Identifiers: chr1:g.45481071C>T (hg19) ; chr1:g.45015399C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015399C>T , CM000663.2:g.45015399C>T	GRCh38
NC_000001.10:g.45481071C>T , CM000663.1:g.45481071C>T	GRCh37
NC_000001.9:g.45253658C>T	NCBI36
NG_007122.2:g.8242C>T
NG_033058.1:g.957G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1005C>T MANE Select	ENSP00000246337.4:p.Ala335=
ENST00000491773.6:c.762C>T	ENSP00000498551.1:p.Ala254=
ENST00000636293.1:c.867C>T	ENSP00000490710.1:p.Ala289=
ENST00000636836.1:c.*41C>T	ENSP00000490594.1:n.*41C>T
ENST00000651476.1:c.900C>T	ENSP00000498668.1:p.Ala300=
ENST00000652165.1:c.762C>T	ENSP00000498295.1:p.Ala254=
ENST00000652287.1:c.942C>T	ENSP00000498413.1:p.Ala314=
ENST00000652514.1:c.966C>T	ENSP00000498635.1:n.966C>T
ENST00000246337.8:c.1005C>T	ENSP00000246337.4:p.Ala335=
ENST00000465678.1:n.750C>T
ENST00000472254.1:n.758C>T
ENST00000494399.5:n.1672C>T
NM_000374.4:c.1005C>T	NP_000365.3:p.Ala335=
NR_036510.1:n.1188C>T
XM_005271169.1:c.789C>T	XP_005271226.1:p.Ala263=
XM_005271170.1:c.789C>T	XP_005271227.1:p.Ala263=
XM_011542080.1:c.942C>T	XP_011540382.1:p.Ala314=
XM_011542081.1:c.837C>T	XP_011540383.1:p.Ala279=
NM_000374.5:c.1005C>T MANE Select	NP_000365.3:p.Ala335=
NR_158184.1:n.1086C>T
NR_158185.1:n.1036C>T
NR_036510.2:n.1067C>T