Canonical Allele Identifier: CA1433072170

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003583G= , CM000666.2:g.1003583G=	GRCh38
NC_000004.11:g.997371G= , CM000666.1:g.997371G=	GRCh37
NC_000004.10:g.987371G=	NCBI36
NG_008103.1:g.21587G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1685G=	ENSP00000247933.4:p.Gly562=
ENST00000514224.2:c.1685G= MANE Select	ENSP00000425081.2:p.Gly562=
ENST00000652070.1:n.1741G=
ENST00000247933.8:c.1685G=	ENSP00000247933.4:p.Gly562=
ENST00000514224.1:c.1289G=	ENSP00000425081.1:p.Gly430=
ENST00000514417.1:n.77G=
ENST00000514698.5:n.1792G=
NM_000203.4:c.1685G=	NP_000194.2:p.Gly562=
NR_110313.1:n.1773G=
XM_006713882.2:c.1289G=	XP_006713945.1:p.Gly430=
XM_011513459.1:c.1751G=	XP_011511761.1:p.Gly584=
XM_011513460.1:c.1544G=	XP_011511762.1:p.Gly515=
XM_011513461.1:c.1478G=	XP_011511763.1:p.Gly493=
XM_011513462.1:c.1397G=	XP_011511764.1:p.Gly466=
XM_011513463.1:c.1397G=	XP_011511765.1:p.Gly466=
XR_924947.1:n.1941G=
NM_000203.5:c.1685G= MANE Select	NP_000194.2:p.Gly562=
NM_001363576.1:c.1289G=	NP_001350505.1:p.Gly430=
XM_011513461.2:c.1478G=	XP_011511763.1:p.Gly493=
XM_017008163.1:c.725G=	XP_016863652.1:p.Gly242=