Canonical Allele Identifier: CA1433068733

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002127G= , CM000666.2:g.1002127G=	GRCh38
NC_000004.11:g.995915G= , CM000666.1:g.995915G=	GRCh37
NC_000004.10:g.985915G=	NCBI36
NG_008103.1:g.20131G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.938G=	ENSP00000247933.4:p.Arg313=
ENST00000514224.2:c.938G= MANE Select	ENSP00000425081.2:p.Arg313=
ENST00000652070.1:n.994G=
ENST00000247933.8:c.938G=	ENSP00000247933.4:p.Arg313=
ENST00000514224.1:c.542G=	ENSP00000425081.1:p.Arg181=
ENST00000514698.5:n.938G=
NM_000203.4:c.938G=	NP_000194.2:p.Arg313=
NR_110313.1:n.1026G=
XM_006713882.2:c.542G=	XP_006713945.1:p.Arg181=
XM_011513459.1:c.897G=	XP_011511761.1:p.Glu299=
XM_011513460.1:c.797G=	XP_011511762.1:p.Arg266=
XM_011513461.1:c.731G=	XP_011511763.1:p.Arg244=
XM_011513462.1:c.650G=	XP_011511764.1:p.Arg217=
XM_011513463.1:c.650G=	XP_011511765.1:p.Arg217=
XR_924947.1:n.1007G=
NM_000203.5:c.938G= MANE Select	NP_000194.2:p.Arg313=
NM_001363576.1:c.542G=	NP_001350505.1:p.Arg181=
XM_011513461.2:c.731G=	XP_011511763.1:p.Arg244=
XM_017008163.1:c.-23G=	XP_016863652.1:n.-23G=