Canonical Allele Identifier: CA1433072264

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003622C= , CM000666.2:g.1003622C=	GRCh38
NC_000004.11:g.997410C= , CM000666.1:g.997410C=	GRCh37
NC_000004.10:g.987410C=	NCBI36
NG_008103.1:g.21626C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1724C=	ENSP00000247933.4:p.Ser575=
ENST00000514224.2:c.1724C= MANE Select	ENSP00000425081.2:p.Ser575=
ENST00000652070.1:n.1780C=
ENST00000247933.8:c.1724C=	ENSP00000247933.4:p.Ser575=
ENST00000514224.1:c.1328C=	ENSP00000425081.1:p.Ser443=
ENST00000514417.1:n.116C=
ENST00000514698.5:n.1831C=
NM_000203.4:c.1724C=	NP_000194.2:p.Ser575=
NR_110313.1:n.1812C=
XM_006713882.2:c.1328C=	XP_006713945.1:p.Ser443=
XM_011513459.1:c.1790C=	XP_011511761.1:p.Ser597=
XM_011513460.1:c.1583C=	XP_011511762.1:p.Ser528=
XM_011513461.1:c.1517C=	XP_011511763.1:p.Ser506=
XM_011513462.1:c.1436C=	XP_011511764.1:p.Ser479=
XM_011513463.1:c.1436C=	XP_011511765.1:p.Ser479=
XR_924947.1:n.1980C=
NM_000203.5:c.1724C= MANE Select	NP_000194.2:p.Ser575=
NM_001363576.1:c.1328C=	NP_001350505.1:p.Ser443=
XM_011513461.2:c.1517C=	XP_011511763.1:p.Ser506=
XM_017008163.1:c.764C=	XP_016863652.1:p.Ser255=