Canonical Allele Identifier: CA1433073212

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004292C= , CM000666.2:g.1004292C=	GRCh38
NC_000004.11:g.998080C= , CM000666.1:g.998080C=	GRCh37
NC_000004.10:g.988080C=	NCBI36
NG_008103.1:g.22296C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1861C=	ENSP00000247933.4:p.Arg621=
ENST00000514224.2:c.1861C= MANE Select	ENSP00000425081.2:p.Arg621=
ENST00000652070.1:n.1917C=
ENST00000247933.8:c.1861C=	ENSP00000247933.4:p.Arg621=
ENST00000514224.1:c.1465C=	ENSP00000425081.1:p.Arg489=
ENST00000514698.5:n.1972C=
NM_000203.4:c.1861C=	NP_000194.2:p.Arg621=
NR_110313.1:n.1953C=
XM_006713882.2:c.1465C=	XP_006713945.1:p.Arg489=
XM_011513459.1:c.1927C=	XP_011511761.1:p.Arg643=
XM_011513460.1:c.1720C=	XP_011511762.1:p.Arg574=
XM_011513461.1:c.1654C=	XP_011511763.1:p.Arg552=
XM_011513462.1:c.1573C=	XP_011511764.1:p.Arg525=
XM_011513463.1:c.1573C=	XP_011511765.1:p.Arg525=
XR_924947.1:n.2121C=
NM_000203.5:c.1861C= MANE Select	NP_000194.2:p.Arg621=
NM_001363576.1:c.1465C=	NP_001350505.1:p.Arg489=
XM_011513461.2:c.1654C=	XP_011511763.1:p.Arg552=
XM_017008163.1:c.901C=	XP_016863652.1:p.Arg301=