Canonical Allele Identifier: CA1433072203

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003595T= , CM000666.2:g.1003595T=	GRCh38
NC_000004.11:g.997383T= , CM000666.1:g.997383T=	GRCh37
NC_000004.10:g.987383T=	NCBI36
NG_008103.1:g.21599T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1697T=	ENSP00000247933.4:p.Leu566=
ENST00000514224.2:c.1697T= MANE Select	ENSP00000425081.2:p.Leu566=
ENST00000652070.1:n.1753T=
ENST00000247933.8:c.1697T=	ENSP00000247933.4:p.Leu566=
ENST00000514224.1:c.1301T=	ENSP00000425081.1:p.Leu434=
ENST00000514417.1:n.89T=
ENST00000514698.5:n.1804T=
NM_000203.4:c.1697T=	NP_000194.2:p.Leu566=
NR_110313.1:n.1785T=
XM_006713882.2:c.1301T=	XP_006713945.1:p.Leu434=
XM_011513459.1:c.1763T=	XP_011511761.1:p.Leu588=
XM_011513460.1:c.1556T=	XP_011511762.1:p.Leu519=
XM_011513461.1:c.1490T=	XP_011511763.1:p.Leu497=
XM_011513462.1:c.1409T=	XP_011511764.1:p.Leu470=
XM_011513463.1:c.1409T=	XP_011511765.1:p.Leu470=
XR_924947.1:n.1953T=
NM_000203.5:c.1697T= MANE Select	NP_000194.2:p.Leu566=
NM_001363576.1:c.1301T=	NP_001350505.1:p.Leu434=
XM_011513461.2:c.1490T=	XP_011511763.1:p.Leu497=
XM_017008163.1:c.737T=	XP_016863652.1:p.Leu246=