Canonical Allele Identifier: CA340120685

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481026G>T (hg19) ; chr1:g.45015354G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015354G>T , CM000663.2:g.45015354G>T	GRCh38
NC_000001.10:g.45481026G>T , CM000663.1:g.45481026G>T	GRCh37
NC_000001.9:g.45253613G>T	NCBI36
NG_007122.2:g.8197G>T
NG_033058.1:g.1002C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.960G>T MANE Select	ENSP00000246337.4:p.Leu320Phe
ENST00000491773.6:c.717G>T	ENSP00000498551.1:p.Leu239Phe
ENST00000636293.1:c.822G>T	ENSP00000490710.1:p.Leu274Phe
ENST00000636836.1:c.893G>T	ENSP00000490594.1:p.Trp298Leu
ENST00000651476.1:c.855G>T	ENSP00000498668.1:p.Leu285Phe
ENST00000652165.1:c.717G>T	ENSP00000498295.1:p.Leu239Phe
ENST00000652287.1:c.897G>T	ENSP00000498413.1:p.Leu299Phe
ENST00000652514.1:c.921G>T	ENSP00000498635.1:n.921G>T
ENST00000246337.8:c.960G>T	ENSP00000246337.4:p.Leu320Phe
ENST00000465678.1:n.705G>T
ENST00000466193.1:n.486G>T
ENST00000472254.1:n.713G>T
ENST00000494399.5:n.1627G>T
NM_000374.4:c.960G>T	NP_000365.3:p.Leu320Phe
NR_036510.1:n.1143G>T
XM_005271169.1:c.744G>T	XP_005271226.1:p.Leu248Phe
XM_005271170.1:c.744G>T	XP_005271227.1:p.Leu248Phe
XM_011542080.1:c.897G>T	XP_011540382.1:p.Leu299Phe
XM_011542081.1:c.792G>T	XP_011540383.1:p.Leu264Phe
NM_000374.5:c.960G>T MANE Select	NP_000365.3:p.Leu320Phe
NR_158184.1:n.1041G>T
NR_158185.1:n.991G>T
NR_036510.2:n.1022G>T