Canonical Allele Identifier: CA1433071869

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003448G= , CM000666.2:g.1003448G=	GRCh38
NC_000004.11:g.997236G= , CM000666.1:g.997236G=	GRCh37
NC_000004.10:g.987236G=	NCBI36
NG_008103.1:g.21452G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1628G=	ENSP00000247933.4:p.Arg543=
ENST00000514224.2:c.1628G= MANE Select	ENSP00000425081.2:p.Arg543=
ENST00000652070.1:n.1684G=
ENST00000247933.8:c.1628G=	ENSP00000247933.4:p.Arg543=
ENST00000514224.1:c.1232G=	ENSP00000425081.1:p.Arg411=
ENST00000514417.1:n.20G=
ENST00000514698.5:n.1735G=
NM_000203.4:c.1628G=	NP_000194.2:p.Arg543=
NR_110313.1:n.1716G=
XM_006713882.2:c.1232G=	XP_006713945.1:p.Arg411=
XM_011513459.1:c.1694G=	XP_011511761.1:p.Arg565=
XM_011513460.1:c.1487G=	XP_011511762.1:p.Arg496=
XM_011513461.1:c.1421G=	XP_011511763.1:p.Arg474=
XM_011513462.1:c.1340G=	XP_011511764.1:p.Arg447=
XM_011513463.1:c.1340G=	XP_011511765.1:p.Arg447=
XR_924947.1:n.1884G=
NM_000203.5:c.1628G= MANE Select	NP_000194.2:p.Arg543=
NM_001363576.1:c.1232G=	NP_001350505.1:p.Arg411=
XM_011513461.2:c.1421G=	XP_011511763.1:p.Arg474=
XM_017008163.1:c.668G=	XP_016863652.1:p.Arg223=