Canonical Allele Identifier: CA1433069125

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002329C= , CM000666.2:g.1002329C=	GRCh38
NC_000004.11:g.996117C= , CM000666.1:g.996117C=	GRCh37
NC_000004.10:g.986117C=	NCBI36
NG_008103.1:g.20333C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1033C=	ENSP00000247933.4:p.Leu345=
ENST00000514224.2:c.1033C= MANE Select	ENSP00000425081.2:p.Leu345=
ENST00000652070.1:n.1089C=
ENST00000247933.8:c.1033C=	ENSP00000247933.4:p.Leu345=
ENST00000514224.1:c.637C=	ENSP00000425081.1:p.Leu213=
ENST00000514698.5:n.1140C=
NM_000203.4:c.1033C=	NP_000194.2:p.Leu345=
NR_110313.1:n.1121C=
XM_006713882.2:c.637C=	XP_006713945.1:p.Leu213=
XM_011513459.1:c.1099C=	XP_011511761.1:p.Leu367=
XM_011513460.1:c.892C=	XP_011511762.1:p.Leu298=
XM_011513461.1:c.826C=	XP_011511763.1:p.Leu276=
XM_011513462.1:c.745C=	XP_011511764.1:p.Leu249=
XM_011513463.1:c.745C=	XP_011511765.1:p.Leu249=
XR_924947.1:n.1102C=
NM_000203.5:c.1033C= MANE Select	NP_000194.2:p.Leu345=
NM_001363576.1:c.637C=	NP_001350505.1:p.Leu213=
XM_011513461.2:c.826C=	XP_011511763.1:p.Leu276=
XM_017008163.1:c.73C=	XP_016863652.1:p.Leu25=