Canonical Allele Identifier: CA1141580779

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45014996A= , CM000663.2:g.45014996A=	GRCh38
NC_000001.10:g.45480668A= , CM000663.1:g.45480668A=	GRCh37
NC_000001.9:g.45253255A=	NCBI36
NG_007122.2:g.7839A=
NG_033058.1:g.1360T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.932A= MANE Select	ENSP00000246337.4:p.Tyr311=
ENST00000491773.6:c.689A=	ENSP00000498551.1:p.Tyr230=
ENST00000636293.1:c.794A=	ENSP00000490710.1:p.Tyr265=
ENST00000636836.1:c.875+160A=	ENSP00000490594.1:n.875+160A=
ENST00000651476.1:c.827A=	ENSP00000498668.1:p.Tyr276=
ENST00000652165.1:c.689A=	ENSP00000498295.1:p.Tyr230=
ENST00000652287.1:c.869A=	ENSP00000498413.1:p.Tyr290=
ENST00000652514.1:c.893A=	ENSP00000498635.1:n.893A=
ENST00000246337.8:c.932A=	ENSP00000246337.4:p.Tyr311=
ENST00000465678.1:n.347A=
ENST00000466193.1:n.458A=
ENST00000472254.1:n.685A=
ENST00000494399.5:n.1599A=
NM_000374.4:c.932A=	NP_000365.3:p.Tyr311=
NR_036510.1:n.1115A=
XM_005271169.1:c.716A=	XP_005271226.1:p.Tyr239=
XM_005271170.1:c.716A=	XP_005271227.1:p.Tyr239=
XM_011542080.1:c.869A=	XP_011540382.1:p.Tyr290=
XM_011542081.1:c.764A=	XP_011540383.1:p.Tyr255=
NM_000374.5:c.932A= MANE Select	NP_000365.3:p.Tyr311=
NR_158184.1:n.1013A=
NR_158185.1:n.963A=
NR_036510.2:n.994A=