Canonical Allele Identifier: CA1433068435

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001997A= , CM000666.2:g.1001997A=	GRCh38
NC_000004.11:g.995785A= , CM000666.1:g.995785A=	GRCh37
NC_000004.10:g.985785A=	NCBI36
NG_008103.1:g.20001A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.808A=	ENSP00000247933.4:p.Ile270=
ENST00000514224.2:c.808A= MANE Select	ENSP00000425081.2:p.Ile270=
ENST00000652070.1:n.864A=
ENST00000247933.8:c.808A=	ENSP00000247933.4:p.Ile270=
ENST00000502910.5:c.667A=	ENSP00000422952.1:p.Ile223=
ENST00000514192.5:c.625A=	ENSP00000423685.1:p.Ile209=
ENST00000514224.1:c.412A=	ENSP00000425081.1:p.Ile138=
ENST00000514698.5:n.808A=
NM_000203.4:c.808A=	NP_000194.2:p.Ile270=
NR_110313.1:n.896A=
XM_006713882.2:c.412A=	XP_006713945.1:p.Ile138=
XM_011513459.1:c.767A=	XP_011511761.1:p.His256=
XM_011513460.1:c.667A=	XP_011511762.1:p.Ile223=
XM_011513461.1:c.601A=	XP_011511763.1:p.Ile201=
XM_011513462.1:c.520A=	XP_011511764.1:p.Ile174=
XM_011513463.1:c.520A=	XP_011511765.1:p.Ile174=
XR_924947.1:n.877A=
NM_000203.5:c.808A= MANE Select	NP_000194.2:p.Ile270=
NM_001363576.1:c.412A=	NP_001350505.1:p.Ile138=
XM_011513461.2:c.601A=	XP_011511763.1:p.Ile201=
XM_017008163.1:c.-153A=	XP_016863652.1:n.-153A=