Canonical Allele Identifier: CA417698714

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481068T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015396T>C , CM000663.2:g.45015396T>C	GRCh38
NC_000001.10:g.45481068T>C , CM000663.1:g.45481068T>C	GRCh37
NC_000001.9:g.45253655T>C	NCBI36
NG_007122.2:g.8239T>C
NG_033058.1:g.960A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1002T>C MANE Select	ENSP00000246337.4:p.Ile334=
ENST00000491773.6:c.759T>C	ENSP00000498551.1:p.Ile253=
ENST00000636293.1:c.864T>C	ENSP00000490710.1:p.Ile288=
ENST00000636836.1:c.*38T>C	ENSP00000490594.1:n.*38T>C
ENST00000651476.1:c.897T>C	ENSP00000498668.1:p.Ile299=
ENST00000652165.1:c.759T>C	ENSP00000498295.1:p.Ile253=
ENST00000652287.1:c.939T>C	ENSP00000498413.1:p.Ile313=
ENST00000652514.1:c.963T>C	ENSP00000498635.1:n.963T>C
ENST00000246337.8:c.1002T>C	ENSP00000246337.4:p.Ile334=
ENST00000465678.1:n.747T>C
ENST00000472254.1:n.755T>C
ENST00000494399.5:n.1669T>C
NM_000374.4:c.1002T>C	NP_000365.3:p.Ile334=
NR_036510.1:n.1185T>C
XM_005271169.1:c.786T>C	XP_005271226.1:p.Ile262=
XM_005271170.1:c.786T>C	XP_005271227.1:p.Ile262=
XM_011542080.1:c.939T>C	XP_011540382.1:p.Ile313=
XM_011542081.1:c.834T>C	XP_011540383.1:p.Ile278=
NM_000374.5:c.1002T>C MANE Select	NP_000365.3:p.Ile334=
NR_158184.1:n.1083T>C
NR_158185.1:n.1033T>C
NR_036510.2:n.1064T>C