Canonical Allele Identifier: CA1433072079

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003552A= , CM000666.2:g.1003552A=	GRCh38
NC_000004.11:g.997340A= , CM000666.1:g.997340A=	GRCh37
NC_000004.10:g.987340A=	NCBI36
NG_008103.1:g.21556A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1654A=	ENSP00000247933.4:p.Thr552=
ENST00000514224.2:c.1654A= MANE Select	ENSP00000425081.2:p.Thr552=
ENST00000652070.1:n.1710A=
ENST00000247933.8:c.1654A=	ENSP00000247933.4:p.Thr552=
ENST00000514224.1:c.1258A=	ENSP00000425081.1:p.Thr420=
ENST00000514417.1:n.46A=
ENST00000514698.5:n.1761A=
NM_000203.4:c.1654A=	NP_000194.2:p.Thr552=
NR_110313.1:n.1742A=
XM_006713882.2:c.1258A=	XP_006713945.1:p.Thr420=
XM_011513459.1:c.1720A=	XP_011511761.1:p.Thr574=
XM_011513460.1:c.1513A=	XP_011511762.1:p.Thr505=
XM_011513461.1:c.1447A=	XP_011511763.1:p.Thr483=
XM_011513462.1:c.1366A=	XP_011511764.1:p.Thr456=
XM_011513463.1:c.1366A=	XP_011511765.1:p.Thr456=
XR_924947.1:n.1910A=
NM_000203.5:c.1654A= MANE Select	NP_000194.2:p.Thr552=
NM_001363576.1:c.1258A=	NP_001350505.1:p.Thr420=
XM_011513461.2:c.1447A=	XP_011511763.1:p.Thr483=
XM_017008163.1:c.694A=	XP_016863652.1:p.Thr232=