Canonical Allele Identifier: CA1433070111

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002747G= , CM000666.2:g.1002747G=	GRCh38
NC_000004.11:g.996535G= , CM000666.1:g.996535G=	GRCh37
NC_000004.10:g.986535G=	NCBI36
NG_008103.1:g.20751G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1205G=	ENSP00000247933.4:p.Trp402=
ENST00000514224.2:c.1205G= MANE Select	ENSP00000425081.2:p.Trp402=
ENST00000652070.1:n.1261G=
ENST00000247933.8:c.1205G=	ENSP00000247933.4:p.Trp402=
ENST00000502829.1:n.7G=
ENST00000514224.1:c.809G=	ENSP00000425081.1:p.Trp270=
ENST00000514698.5:n.1312G=
NM_000203.4:c.1205G=	NP_000194.2:p.Trp402=
NR_110313.1:n.1293G=
XM_006713882.2:c.809G=	XP_006713945.1:p.Trp270=
XM_011513459.1:c.1271G=	XP_011511761.1:p.Trp424=
XM_011513460.1:c.1064G=	XP_011511762.1:p.Trp355=
XM_011513461.1:c.998G=	XP_011511763.1:p.Trp333=
XM_011513462.1:c.917G=	XP_011511764.1:p.Trp306=
XM_011513463.1:c.917G=	XP_011511765.1:p.Trp306=
XR_924947.1:n.1274G=
NM_000203.5:c.1205G= MANE Select	NP_000194.2:p.Trp402=
NM_001363576.1:c.809G=	NP_001350505.1:p.Trp270=
XM_011513461.2:c.998G=	XP_011511763.1:p.Trp333=
XM_017008163.1:c.245G=	XP_016863652.1:p.Trp82=