Canonical Allele Identifier: CA1433072208

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003598T= , CM000666.2:g.1003598T=	GRCh38
NC_000004.11:g.997386T= , CM000666.1:g.997386T=	GRCh37
NC_000004.10:g.987386T=	NCBI36
NG_008103.1:g.21602T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1700T=	ENSP00000247933.4:p.Val567=
ENST00000514224.2:c.1700T= MANE Select	ENSP00000425081.2:p.Val567=
ENST00000652070.1:n.1756T=
ENST00000247933.8:c.1700T=	ENSP00000247933.4:p.Val567=
ENST00000514224.1:c.1304T=	ENSP00000425081.1:p.Val435=
ENST00000514417.1:n.92T=
ENST00000514698.5:n.1807T=
NM_000203.4:c.1700T=	NP_000194.2:p.Val567=
NR_110313.1:n.1788T=
XM_006713882.2:c.1304T=	XP_006713945.1:p.Val435=
XM_011513459.1:c.1766T=	XP_011511761.1:p.Val589=
XM_011513460.1:c.1559T=	XP_011511762.1:p.Val520=
XM_011513461.1:c.1493T=	XP_011511763.1:p.Val498=
XM_011513462.1:c.1412T=	XP_011511764.1:p.Val471=
XM_011513463.1:c.1412T=	XP_011511765.1:p.Val471=
XR_924947.1:n.1956T=
NM_000203.5:c.1700T= MANE Select	NP_000194.2:p.Val567=
NM_001363576.1:c.1304T=	NP_001350505.1:p.Val435=
XM_011513461.2:c.1493T=	XP_011511763.1:p.Val498=
XM_017008163.1:c.740T=	XP_016863652.1:p.Val247=