Canonical Allele Identifier: CA1433068495

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002012C= , CM000666.2:g.1002012C=	GRCh38
NC_000004.11:g.995800C= , CM000666.1:g.995800C=	GRCh37
NC_000004.10:g.985800C=	NCBI36
NG_008103.1:g.20016C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.823C=	ENSP00000247933.4:p.Gln275=
ENST00000514224.2:c.823C= MANE Select	ENSP00000425081.2:p.Gln275=
ENST00000652070.1:n.879C=
ENST00000247933.8:c.823C=	ENSP00000247933.4:p.Gln275=
ENST00000514192.5:c.640C=	ENSP00000423685.1:p.Gln214=
ENST00000514224.1:c.427C=	ENSP00000425081.1:p.Gln143=
ENST00000514698.5:n.823C=
NM_000203.4:c.823C=	NP_000194.2:p.Gln275=
NR_110313.1:n.911C=
XM_006713882.2:c.427C=	XP_006713945.1:p.Gln143=
XM_011513459.1:c.782C=	XP_011511761.1:p.Ala261=
XM_011513460.1:c.682C=	XP_011511762.1:p.Gln228=
XM_011513461.1:c.616C=	XP_011511763.1:p.Gln206=
XM_011513462.1:c.535C=	XP_011511764.1:p.Gln179=
XM_011513463.1:c.535C=	XP_011511765.1:p.Gln179=
XR_924947.1:n.892C=
NM_000203.5:c.823C= MANE Select	NP_000194.2:p.Gln275=
NM_001363576.1:c.427C=	NP_001350505.1:p.Gln143=
XM_011513461.2:c.616C=	XP_011511763.1:p.Gln206=
XM_017008163.1:c.-138C=	XP_016863652.1:n.-138C=