Canonical Allele Identifier: CA1433069375

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002392A= , CM000666.2:g.1002392A=	GRCh38
NC_000004.11:g.996180A= , CM000666.1:g.996180A=	GRCh37
NC_000004.10:g.986180A=	NCBI36
NG_008103.1:g.20396A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1096A= MANE Select	NP_000194.2:p.Thr366=
ENST00000514224.2:c.1096A= MANE Select	ENSP00000425081.2:p.Thr366=
NM_000203.4:c.1096A=	NP_000194.2:p.Thr366=
NM_001363576.1:c.700A=	NP_001350505.1:p.Thr234=
NR_110313.1:n.1184A=
ENST00000247933.8:c.1096A=	ENSP00000247933.4:p.Thr366=
ENST00000247933.9:c.1096A=	ENSP00000247933.4:p.Thr366=
ENST00000514224.1:c.700A=	ENSP00000425081.1:p.Thr234=
ENST00000514698.5:n.1203A=
ENST00000652070.1:n.1152A=
XM_006713882.2:c.700A=	XP_006713945.1:p.Thr234=
XM_011513459.1:c.1162A=	XP_011511761.1:p.Thr388=
XM_011513460.1:c.955A=	XP_011511762.1:p.Thr319=
XM_011513461.1:c.889A=	XP_011511763.1:p.Thr297=
XM_011513461.2:c.889A=	XP_011511763.1:p.Thr297=
XM_011513462.1:c.808A=	XP_011511764.1:p.Thr270=
XM_011513463.1:c.808A=	XP_011511765.1:p.Thr270=
XM_017008163.1:c.136A=	XP_016863652.1:p.Thr46=
XR_924947.1:n.1165A=