Canonical Allele Identifier: CA417698699

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481041G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015369G>T , CM000663.2:g.45015369G>T	GRCh38
NC_000001.10:g.45481041G>T , CM000663.1:g.45481041G>T	GRCh37
NC_000001.9:g.45253628G>T	NCBI36
NG_007122.2:g.8212G>T
NG_033058.1:g.987C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.975G>T MANE Select	ENSP00000246337.4:p.Leu325=
ENST00000491773.6:c.732G>T	ENSP00000498551.1:p.Leu244=
ENST00000636293.1:c.837G>T	ENSP00000490710.1:p.Leu279=
ENST00000636836.1:c.*11G>T	ENSP00000490594.1:n.*11G>T
ENST00000651476.1:c.870G>T	ENSP00000498668.1:p.Leu290=
ENST00000652165.1:c.732G>T	ENSP00000498295.1:p.Leu244=
ENST00000652287.1:c.912G>T	ENSP00000498413.1:p.Leu304=
ENST00000652514.1:c.936G>T	ENSP00000498635.1:n.936G>T
ENST00000246337.8:c.975G>T	ENSP00000246337.4:p.Leu325=
ENST00000465678.1:n.720G>T
ENST00000466193.1:n.501G>T
ENST00000472254.1:n.728G>T
ENST00000494399.5:n.1642G>T
NM_000374.4:c.975G>T	NP_000365.3:p.Leu325=
NR_036510.1:n.1158G>T
XM_005271169.1:c.759G>T	XP_005271226.1:p.Leu253=
XM_005271170.1:c.759G>T	XP_005271227.1:p.Leu253=
XM_011542080.1:c.912G>T	XP_011540382.1:p.Leu304=
XM_011542081.1:c.807G>T	XP_011540383.1:p.Leu269=
NM_000374.5:c.975G>T MANE Select	NP_000365.3:p.Leu325=
NR_158184.1:n.1056G>T
NR_158185.1:n.1006G>T
NR_036510.2:n.1037G>T