Canonical Allele Identifier: CA1433072237

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003613A= , CM000666.2:g.1003613A=	GRCh38
NC_000004.11:g.997401A= , CM000666.1:g.997401A=	GRCh37
NC_000004.10:g.987401A=	NCBI36
NG_008103.1:g.21617A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1715A=	ENSP00000247933.4:p.His572=
ENST00000514224.2:c.1715A= MANE Select	ENSP00000425081.2:p.His572=
ENST00000652070.1:n.1771A=
ENST00000247933.8:c.1715A=	ENSP00000247933.4:p.His572=
ENST00000514224.1:c.1319A=	ENSP00000425081.1:p.His440=
ENST00000514417.1:n.107A=
ENST00000514698.5:n.1822A=
NM_000203.4:c.1715A=	NP_000194.2:p.His572=
NR_110313.1:n.1803A=
XM_006713882.2:c.1319A=	XP_006713945.1:p.His440=
XM_011513459.1:c.1781A=	XP_011511761.1:p.His594=
XM_011513460.1:c.1574A=	XP_011511762.1:p.His525=
XM_011513461.1:c.1508A=	XP_011511763.1:p.His503=
XM_011513462.1:c.1427A=	XP_011511764.1:p.His476=
XM_011513463.1:c.1427A=	XP_011511765.1:p.His476=
XR_924947.1:n.1971A=
NM_000203.5:c.1715A= MANE Select	NP_000194.2:p.His572=
NM_001363576.1:c.1319A=	NP_001350505.1:p.His440=
XM_011513461.2:c.1508A=	XP_011511763.1:p.His503=
XM_017008163.1:c.755A=	XP_016863652.1:p.His252=