Canonical Allele Identifier: CA1433072339

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003652C= , CM000666.2:g.1003652C=	GRCh38
NC_000004.11:g.997440C= , CM000666.1:g.997440C=	GRCh37
NC_000004.10:g.987440C=	NCBI36
NG_008103.1:g.21656C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1727+27C=	ENSP00000247933.4:n.1727+27C=
ENST00000514224.2:c.1727+27C= MANE Select	ENSP00000425081.2:n.1727+27C=
ENST00000652070.1:n.1783+27C=
ENST00000247933.8:c.1727+27C=	ENSP00000247933.4:n.1727+27C=
ENST00000514224.1:c.1331+27C=	ENSP00000425081.1:n.1331+27C=
ENST00000514417.1:n.146C=
ENST00000514698.5:n.1838+23C=
NM_000203.4:c.1727+27C=	NP_000194.2:n.1727+27C=
NR_110313.1:n.1819+23C=
XM_006713882.2:c.1331+27C=	XP_006713945.1:n.1331+27C=
XM_011513459.1:c.1793+27C=	XP_011511761.1:n.1793+27C=
XM_011513460.1:c.1586+27C=	XP_011511762.1:n.1586+27C=
XM_011513461.1:c.1520+27C=	XP_011511763.1:n.1520+27C=
XM_011513462.1:c.1439+27C=	XP_011511764.1:n.1439+27C=
XM_011513463.1:c.1439+27C=	XP_011511765.1:n.1439+27C=
XR_924947.1:n.1987+23C=
NM_000203.5:c.1727+27C= MANE Select	NP_000194.2:n.1727+27C=
NM_001363576.1:c.1331+27C=	NP_001350505.1:n.1331+27C=
XM_011513461.2:c.1520+27C=	XP_011511763.1:n.1520+27C=
XM_017008163.1:c.767+27C=	XP_016863652.1:n.767+27C=