Canonical Allele Identifier: CA1433069178

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002341G= , CM000666.2:g.1002341G=	GRCh38
NC_000004.11:g.996129G= , CM000666.1:g.996129G=	GRCh37
NC_000004.10:g.986129G=	NCBI36
NG_008103.1:g.20345G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1045G=	ENSP00000247933.4:p.Asp349=
ENST00000514224.2:c.1045G= MANE Select	ENSP00000425081.2:p.Asp349=
ENST00000652070.1:n.1101G=
ENST00000247933.8:c.1045G=	ENSP00000247933.4:p.Asp349=
ENST00000514224.1:c.649G=	ENSP00000425081.1:p.Asp217=
ENST00000514698.5:n.1152G=
NM_000203.4:c.1045G=	NP_000194.2:p.Asp349=
NR_110313.1:n.1133G=
XM_006713882.2:c.649G=	XP_006713945.1:p.Asp217=
XM_011513459.1:c.1111G=	XP_011511761.1:p.Asp371=
XM_011513460.1:c.904G=	XP_011511762.1:p.Asp302=
XM_011513461.1:c.838G=	XP_011511763.1:p.Asp280=
XM_011513462.1:c.757G=	XP_011511764.1:p.Asp253=
XM_011513463.1:c.757G=	XP_011511765.1:p.Asp253=
XR_924947.1:n.1114G=
NM_000203.5:c.1045G= MANE Select	NP_000194.2:p.Asp349=
NM_001363576.1:c.649G=	NP_001350505.1:p.Asp217=
XM_011513461.2:c.838G=	XP_011511763.1:p.Asp280=
XM_017008163.1:c.85G=	XP_016863652.1:p.Asp29=