Canonical Allele Identifier: CA1433071788

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003367G= , CM000666.2:g.1003367G=	GRCh38
NC_000004.11:g.997155G= , CM000666.1:g.997155G=	GRCh37
NC_000004.10:g.987155G=	NCBI36
NG_008103.1:g.21371G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1547G=	ENSP00000247933.4:p.Arg516=
ENST00000514224.2:c.1547G= MANE Select	ENSP00000425081.2:p.Arg516=
ENST00000652070.1:n.1603G=
ENST00000247933.8:c.1547G=	ENSP00000247933.4:p.Arg516=
ENST00000502829.1:n.536G=
ENST00000514224.1:c.1151G=	ENSP00000425081.1:p.Arg384=
ENST00000514698.5:n.1654G=
NM_000203.4:c.1547G=	NP_000194.2:p.Arg516=
NR_110313.1:n.1635G=
XM_006713882.2:c.1151G=	XP_006713945.1:p.Arg384=
XM_011513459.1:c.1613G=	XP_011511761.1:p.Arg538=
XM_011513460.1:c.1406G=	XP_011511762.1:p.Arg469=
XM_011513461.1:c.1340G=	XP_011511763.1:p.Arg447=
XM_011513462.1:c.1259G=	XP_011511764.1:p.Arg420=
XM_011513463.1:c.1259G=	XP_011511765.1:p.Arg420=
XR_924947.1:n.1803G=
NM_000203.5:c.1547G= MANE Select	NP_000194.2:p.Arg516=
NM_001363576.1:c.1151G=	NP_001350505.1:p.Arg384=
XM_011513461.2:c.1340G=	XP_011511763.1:p.Arg447=
XM_017008163.1:c.587G=	XP_016863652.1:p.Arg196=