Canonical Allele Identifier: CA1433069028

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002287A= , CM000666.2:g.1002287A=	GRCh38
NC_000004.11:g.996075A= , CM000666.1:g.996075A=	GRCh37
NC_000004.10:g.986075A=	NCBI36
NG_008103.1:g.20291A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.991A=	ENSP00000247933.4:p.Asn331=
ENST00000514224.2:c.991A= MANE Select	ENSP00000425081.2:p.Asn331=
ENST00000652070.1:n.1047A=
ENST00000247933.8:c.991A=	ENSP00000247933.4:p.Asn331=
ENST00000514224.1:c.595A=	ENSP00000425081.1:p.Asn199=
ENST00000514698.5:n.1098A=
NM_000203.4:c.991A=	NP_000194.2:p.Asn331=
NR_110313.1:n.1079A=
XM_006713882.2:c.595A=	XP_006713945.1:p.Asn199=
XM_011513459.1:c.1057A=	XP_011511761.1:p.Asn353=
XM_011513460.1:c.850A=	XP_011511762.1:p.Asn284=
XM_011513461.1:c.784A=	XP_011511763.1:p.Asn262=
XM_011513462.1:c.703A=	XP_011511764.1:p.Asn235=
XM_011513463.1:c.703A=	XP_011511765.1:p.Asn235=
XR_924947.1:n.1060A=
NM_000203.5:c.991A= MANE Select	NP_000194.2:p.Asn331=
NM_001363576.1:c.595A=	NP_001350505.1:p.Asn199=
XM_011513461.2:c.784A=	XP_011511763.1:p.Asn262=
XM_017008163.1:c.31A=	XP_016863652.1:p.Asn11=