Canonical Allele Identifier: CA1433069025

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002282A= , CM000666.2:g.1002282A=	GRCh38
NC_000004.11:g.996070A= , CM000666.1:g.996070A=	GRCh37
NC_000004.10:g.986070A=	NCBI36
NG_008103.1:g.20286A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.986A=	ENSP00000247933.4:p.His329=
ENST00000514224.2:c.986A= MANE Select	ENSP00000425081.2:p.His329=
ENST00000652070.1:n.1042A=
ENST00000247933.8:c.986A=	ENSP00000247933.4:p.His329=
ENST00000514224.1:c.590A=	ENSP00000425081.1:p.His197=
ENST00000514698.5:n.1093A=
NM_000203.4:c.986A=	NP_000194.2:p.His329=
NR_110313.1:n.1074A=
XM_006713882.2:c.590A=	XP_006713945.1:p.His197=
XM_011513459.1:c.1052A=	XP_011511761.1:p.His351=
XM_011513460.1:c.845A=	XP_011511762.1:p.His282=
XM_011513461.1:c.779A=	XP_011511763.1:p.His260=
XM_011513462.1:c.698A=	XP_011511764.1:p.His233=
XM_011513463.1:c.698A=	XP_011511765.1:p.His233=
XR_924947.1:n.1055A=
NM_000203.5:c.986A= MANE Select	NP_000194.2:p.His329=
NM_001363576.1:c.590A=	NP_001350505.1:p.His197=
XM_011513461.2:c.779A=	XP_011511763.1:p.His260=
XM_017008163.1:c.26A=	XP_016863652.1:p.His9=