Canonical Allele Identifier: CA1433069575

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002467G= , CM000666.2:g.1002467G=	GRCh38
NC_000004.11:g.996255G= , CM000666.1:g.996255G=	GRCh37
NC_000004.10:g.986255G=	NCBI36
NG_008103.1:g.20471G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1171G=	ENSP00000247933.4:p.Gly391=
ENST00000514224.2:c.1171G= MANE Select	ENSP00000425081.2:p.Gly391=
ENST00000652070.1:n.1227G=
ENST00000247933.8:c.1171G=	ENSP00000247933.4:p.Gly391=
ENST00000514224.1:c.775G=	ENSP00000425081.1:p.Gly259=
ENST00000514698.5:n.1278G=
NM_000203.4:c.1171G=	NP_000194.2:p.Gly391=
NR_110313.1:n.1259G=
XM_006713882.2:c.775G=	XP_006713945.1:p.Gly259=
XM_011513459.1:c.1237G=	XP_011511761.1:p.Gly413=
XM_011513460.1:c.1030G=	XP_011511762.1:p.Gly344=
XM_011513461.1:c.964G=	XP_011511763.1:p.Gly322=
XM_011513462.1:c.883G=	XP_011511764.1:p.Gly295=
XM_011513463.1:c.883G=	XP_011511765.1:p.Gly295=
XR_924947.1:n.1240G=
NM_000203.5:c.1171G= MANE Select	NP_000194.2:p.Gly391=
NM_001363576.1:c.775G=	NP_001350505.1:p.Gly259=
XM_011513461.2:c.964G=	XP_011511763.1:p.Gly322=
XM_017008163.1:c.211G=	XP_016863652.1:p.Gly71=