Canonical Allele Identifier: CA1433069007

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002275G= , CM000666.2:g.1002275G=	GRCh38
NC_000004.11:g.996063G= , CM000666.1:g.996063G=	GRCh37
NC_000004.10:g.986063G=	NCBI36
NG_008103.1:g.20279G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.979G= MANE Select	NP_000194.2:p.Ala327=
ENST00000514224.2:c.979G= MANE Select	ENSP00000425081.2:p.Ala327=
NM_000203.4:c.979G=	NP_000194.2:p.Ala327=
NM_001363576.1:c.583G=	NP_001350505.1:p.Ala195=
NR_110313.1:n.1067G=
ENST00000247933.8:c.979G=	ENSP00000247933.4:p.Ala327=
ENST00000247933.9:c.979G=	ENSP00000247933.4:p.Ala327=
ENST00000514224.1:c.583G=	ENSP00000425081.1:p.Ala195=
ENST00000514698.5:n.1086G=
ENST00000652070.1:n.1035G=
XM_006713882.2:c.583G=	XP_006713945.1:p.Ala195=
XM_011513459.1:c.1045G=	XP_011511761.1:p.Ala349=
XM_011513460.1:c.838G=	XP_011511762.1:p.Ala280=
XM_011513461.1:c.772G=	XP_011511763.1:p.Ala258=
XM_011513461.2:c.772G=	XP_011511763.1:p.Ala258=
XM_011513462.1:c.691G=	XP_011511764.1:p.Ala231=
XM_011513463.1:c.691G=	XP_011511765.1:p.Ala231=
XM_017008163.1:c.19G=	XP_016863652.1:p.Ala7=
XR_924947.1:n.1048G=