Canonical Allele Identifier: CA1433071785

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003362G= , CM000666.2:g.1003362G=	GRCh38
NC_000004.11:g.997150G= , CM000666.1:g.997150G=	GRCh37
NC_000004.10:g.987150G=	NCBI36
NG_008103.1:g.21366G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1542G=	ENSP00000247933.4:p.Ala514=
ENST00000514224.2:c.1542G= MANE Select	ENSP00000425081.2:p.Ala514=
ENST00000652070.1:n.1598G=
ENST00000247933.8:c.1542G=	ENSP00000247933.4:p.Ala514=
ENST00000502829.1:n.531G=
ENST00000514224.1:c.1146G=	ENSP00000425081.1:p.Ala382=
ENST00000514698.5:n.1649G=
NM_000203.4:c.1542G=	NP_000194.2:p.Ala514=
NR_110313.1:n.1630G=
XM_006713882.2:c.1146G=	XP_006713945.1:p.Ala382=
XM_011513459.1:c.1608G=	XP_011511761.1:p.Ala536=
XM_011513460.1:c.1401G=	XP_011511762.1:p.Ala467=
XM_011513461.1:c.1335G=	XP_011511763.1:p.Ala445=
XM_011513462.1:c.1254G=	XP_011511764.1:p.Ala418=
XM_011513463.1:c.1254G=	XP_011511765.1:p.Ala418=
XR_924947.1:n.1798G=
NM_000203.5:c.1542G= MANE Select	NP_000194.2:p.Ala514=
NM_001363576.1:c.1146G=	NP_001350505.1:p.Ala382=
XM_011513461.2:c.1335G=	XP_011511763.1:p.Ala445=
XM_017008163.1:c.582G=	XP_016863652.1:p.Ala194=