Canonical Allele Identifier: CA340120836

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481064A>T (hg19) ; chr1:g.45015392A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015392A>T , CM000663.2:g.45015392A>T	GRCh38
NC_000001.10:g.45481064A>T , CM000663.1:g.45481064A>T	GRCh37
NC_000001.9:g.45253651A>T	NCBI36
NG_007122.2:g.8235A>T
NG_033058.1:g.964T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.998A>T MANE Select	ENSP00000246337.4:p.Tyr333Phe
ENST00000491773.6:c.755A>T	ENSP00000498551.1:p.Tyr252Phe
ENST00000636293.1:c.860A>T	ENSP00000490710.1:p.Tyr287Phe
ENST00000636836.1:c.*34A>T	ENSP00000490594.1:n.*34A>T
ENST00000651476.1:c.893A>T	ENSP00000498668.1:p.Tyr298Phe
ENST00000652165.1:c.755A>T	ENSP00000498295.1:p.Tyr252Phe
ENST00000652287.1:c.935A>T	ENSP00000498413.1:p.Tyr312Phe
ENST00000652514.1:c.959A>T	ENSP00000498635.1:n.959A>T
ENST00000246337.8:c.998A>T	ENSP00000246337.4:p.Tyr333Phe
ENST00000465678.1:n.743A>T
ENST00000466193.1:n.524A>T
ENST00000472254.1:n.751A>T
ENST00000494399.5:n.1665A>T
NM_000374.4:c.998A>T	NP_000365.3:p.Tyr333Phe
NR_036510.1:n.1181A>T
XM_005271169.1:c.782A>T	XP_005271226.1:p.Tyr261Phe
XM_005271170.1:c.782A>T	XP_005271227.1:p.Tyr261Phe
XM_011542080.1:c.935A>T	XP_011540382.1:p.Tyr312Phe
XM_011542081.1:c.830A>T	XP_011540383.1:p.Tyr277Phe
NM_000374.5:c.998A>T MANE Select	NP_000365.3:p.Tyr333Phe
NR_158184.1:n.1079A>T
NR_158185.1:n.1029A>T
NR_036510.2:n.1060A>T