Canonical Allele Identifier: CA1433068611

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002073T= , CM000666.2:g.1002073T=	GRCh38
NC_000004.11:g.995861T= , CM000666.1:g.995861T=	GRCh37
NC_000004.10:g.985861T=	NCBI36
NG_008103.1:g.20077T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.884T=	ENSP00000247933.4:p.Ile295=
ENST00000514224.2:c.884T= MANE Select	ENSP00000425081.2:p.Ile295=
ENST00000652070.1:n.940T=
ENST00000247933.8:c.884T=	ENSP00000247933.4:p.Ile295=
ENST00000514224.1:c.488T=	ENSP00000425081.1:p.Ile163=
ENST00000514698.5:n.884T=
NM_000203.4:c.884T=	NP_000194.2:p.Ile295=
NR_110313.1:n.972T=
XM_006713882.2:c.488T=	XP_006713945.1:p.Ile163=
XM_011513459.1:c.843T=	XP_011511761.1:p.His281=
XM_011513460.1:c.743T=	XP_011511762.1:p.Ile248=
XM_011513461.1:c.677T=	XP_011511763.1:p.Ile226=
XM_011513462.1:c.596T=	XP_011511764.1:p.Ile199=
XM_011513463.1:c.596T=	XP_011511765.1:p.Ile199=
XR_924947.1:n.953T=
NM_000203.5:c.884T= MANE Select	NP_000194.2:p.Ile295=
NM_001363576.1:c.488T=	NP_001350505.1:p.Ile163=
XM_011513461.2:c.677T=	XP_011511763.1:p.Ile226=
XM_017008163.1:c.-77T=	XP_016863652.1:n.-77T=