Canonical Allele Identifier: CA1433067732

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001708G= , CM000666.2:g.1001708G=	GRCh38
NC_000004.11:g.995496G= , CM000666.1:g.995496G=	GRCh37
NC_000004.10:g.985496G=	NCBI36
NG_008103.1:g.19712G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.619G=	ENSP00000247933.4:p.Glu207=
ENST00000514224.2:c.619G= MANE Select	ENSP00000425081.2:p.Glu207=
ENST00000652070.1:n.675G=
ENST00000247933.8:c.619G=	ENSP00000247933.4:p.Glu207=
ENST00000502910.5:c.478G=	ENSP00000422952.1:p.Glu160=
ENST00000504568.5:c.579G=
ENST00000509948.5:c.412G=	ENSP00000424227.1:p.Glu138=
ENST00000514192.5:c.436G=	ENSP00000423685.1:p.Glu146=
ENST00000514224.1:c.223G=	ENSP00000425081.1:p.Glu75=
ENST00000514698.5:n.519G=
NM_000203.4:c.619G=	NP_000194.2:p.Glu207=
NR_110313.1:n.707G=
XM_006713882.2:c.223G=	XP_006713945.1:p.Glu75=
XM_011513459.1:c.478G=	XP_011511761.1:p.Glu160=
XM_011513460.1:c.478G=	XP_011511762.1:p.Glu160=
XM_011513461.1:c.412G=	XP_011511763.1:p.Glu138=
XM_011513462.1:c.331G=	XP_011511764.1:p.Glu111=
XM_011513463.1:c.331G=	XP_011511765.1:p.Glu111=
XR_924947.1:n.688G=
NM_000203.5:c.619G= MANE Select	NP_000194.2:p.Glu207=
NM_001363576.1:c.223G=	NP_001350505.1:p.Glu75=
XM_011513461.2:c.412G=	XP_011511763.1:p.Glu138=
XM_017008163.1:c.-342G=	XP_016863652.1:n.-342G=