Canonical Allele Identifier: CA1433068535

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002037T= , CM000666.2:g.1002037T=	GRCh38
NC_000004.11:g.995825T= , CM000666.1:g.995825T=	GRCh37
NC_000004.10:g.985825T=	NCBI36
NG_008103.1:g.20041T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.848T=	ENSP00000247933.4:p.Ile283=
ENST00000514224.2:c.848T= MANE Select	ENSP00000425081.2:p.Ile283=
ENST00000652070.1:n.904T=
ENST00000247933.8:c.848T=	ENSP00000247933.4:p.Ile283=
ENST00000514192.5:c.665T=	ENSP00000423685.1:p.Ile222=
ENST00000514224.1:c.452T=	ENSP00000425081.1:p.Ile151=
ENST00000514698.5:n.848T=
NM_000203.4:c.848T=	NP_000194.2:p.Ile283=
NR_110313.1:n.936T=
XM_006713882.2:c.452T=	XP_006713945.1:p.Ile151=
XM_011513459.1:c.807T=	XP_011511761.1:p.Asp269=
XM_011513460.1:c.707T=	XP_011511762.1:p.Ile236=
XM_011513461.1:c.641T=	XP_011511763.1:p.Ile214=
XM_011513462.1:c.560T=	XP_011511764.1:p.Ile187=
XM_011513463.1:c.560T=	XP_011511765.1:p.Ile187=
XR_924947.1:n.917T=
NM_000203.5:c.848T= MANE Select	NP_000194.2:p.Ile283=
NM_001363576.1:c.452T=	NP_001350505.1:p.Ile151=
XM_011513461.2:c.641T=	XP_011511763.1:p.Ile214=
XM_017008163.1:c.-113T=	XP_016863652.1:n.-113T=