Canonical Allele Identifier: CA1433072230

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003607A= , CM000666.2:g.1003607A=	GRCh38
NC_000004.11:g.997395A= , CM000666.1:g.997395A=	GRCh37
NC_000004.10:g.987395A=	NCBI36
NG_008103.1:g.21611A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1709A=	ENSP00000247933.4:p.Asp570=
ENST00000514224.2:c.1709A= MANE Select	ENSP00000425081.2:p.Asp570=
ENST00000652070.1:n.1765A=
ENST00000247933.8:c.1709A=	ENSP00000247933.4:p.Asp570=
ENST00000514224.1:c.1313A=	ENSP00000425081.1:p.Asp438=
ENST00000514417.1:n.101A=
ENST00000514698.5:n.1816A=
NM_000203.4:c.1709A=	NP_000194.2:p.Asp570=
NR_110313.1:n.1797A=
XM_006713882.2:c.1313A=	XP_006713945.1:p.Asp438=
XM_011513459.1:c.1775A=	XP_011511761.1:p.Asp592=
XM_011513460.1:c.1568A=	XP_011511762.1:p.Asp523=
XM_011513461.1:c.1502A=	XP_011511763.1:p.Asp501=
XM_011513462.1:c.1421A=	XP_011511764.1:p.Asp474=
XM_011513463.1:c.1421A=	XP_011511765.1:p.Asp474=
XR_924947.1:n.1965A=
NM_000203.5:c.1709A= MANE Select	NP_000194.2:p.Asp570=
NM_001363576.1:c.1313A=	NP_001350505.1:p.Asp438=
XM_011513461.2:c.1502A=	XP_011511763.1:p.Asp501=
XM_017008163.1:c.749A=	XP_016863652.1:p.Asp250=