Canonical Allele Identifier: CA1433068774

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002139C= , CM000666.2:g.1002139C=	GRCh38
NC_000004.11:g.995927C= , CM000666.1:g.995927C=	GRCh37
NC_000004.10:g.985927C=	NCBI36
NG_008103.1:g.20143C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.950C=	ENSP00000247933.4:p.Thr317=
ENST00000514224.2:c.950C= MANE Select	ENSP00000425081.2:p.Thr317=
ENST00000652070.1:n.1006C=
ENST00000247933.8:c.950C=	ENSP00000247933.4:p.Thr317=
ENST00000514224.1:c.554C=	ENSP00000425081.1:p.Thr185=
ENST00000514698.5:n.950C=
NM_000203.4:c.950C=	NP_000194.2:p.Thr317=
NR_110313.1:n.1038C=
XM_006713882.2:c.554C=	XP_006713945.1:p.Thr185=
XM_011513459.1:c.909C=	XP_011511761.1:p.Asp303=
XM_011513460.1:c.809C=	XP_011511762.1:p.Thr270=
XM_011513461.1:c.743C=	XP_011511763.1:p.Thr248=
XM_011513462.1:c.662C=	XP_011511764.1:p.Thr221=
XM_011513463.1:c.662C=	XP_011511765.1:p.Thr221=
XR_924947.1:n.1019C=
NM_000203.5:c.950C= MANE Select	NP_000194.2:p.Thr317=
NM_001363576.1:c.554C=	NP_001350505.1:p.Thr185=
XM_011513461.2:c.743C=	XP_011511763.1:p.Thr248=
XM_017008163.1:c.-11C=	XP_016863652.1:n.-11C=