Canonical Allele Identifier: CA1433067268

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001471G= , CM000666.2:g.1001471G=	GRCh38
NC_000004.11:g.995259G= , CM000666.1:g.995259G=	GRCh37
NC_000004.10:g.985259G=	NCBI36
NG_008103.1:g.19475G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.497G=	ENSP00000247933.4:p.Arg166=
ENST00000514224.2:c.497G= MANE Select	ENSP00000425081.2:p.Arg166=
ENST00000652070.1:n.553G=
ENST00000247933.8:c.497G=	ENSP00000247933.4:p.Arg166=
ENST00000502910.5:c.356G=	ENSP00000422952.1:p.Arg119=
ENST00000504568.5:c.457G=
ENST00000509948.5:c.290G=	ENSP00000424227.1:p.Arg97=
ENST00000514192.5:c.314G=	ENSP00000423685.1:p.Arg105=
ENST00000514224.1:c.101G=	ENSP00000425081.1:p.Arg34=
ENST00000514698.5:n.397G=
NM_000203.4:c.497G=	NP_000194.2:p.Arg166=
NR_110313.1:n.585G=
XM_006713882.2:c.101G=	XP_006713945.1:p.Arg34=
XM_011513459.1:c.356G=	XP_011511761.1:p.Arg119=
XM_011513460.1:c.356G=	XP_011511762.1:p.Arg119=
XM_011513461.1:c.290G=	XP_011511763.1:p.Arg97=
XM_011513462.1:c.209G=	XP_011511764.1:p.Arg70=
XM_011513463.1:c.209G=	XP_011511765.1:p.Arg70=
XR_924947.1:n.566G=
NM_000203.5:c.497G= MANE Select	NP_000194.2:p.Arg166=
NM_001363576.1:c.101G=	NP_001350505.1:p.Arg34=
XM_011513461.2:c.290G=	XP_011511763.1:p.Arg97=
XM_017008163.1:c.-492G=	XP_016863652.1:n.-492G=