Canonical Allele Identifier: CA1433068120

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001856T= , CM000666.2:g.1001856T=	GRCh38
NC_000004.11:g.995644T= , CM000666.1:g.995644T=	GRCh37
NC_000004.10:g.985644T=	NCBI36
NG_008103.1:g.19860T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.767T=	ENSP00000247933.4:p.Leu256=
ENST00000514224.2:c.767T= MANE Select	ENSP00000425081.2:p.Leu256=
ENST00000652070.1:n.823T=
ENST00000247933.8:c.767T=	ENSP00000247933.4:p.Leu256=
ENST00000502910.5:c.626T=	ENSP00000422952.1:p.Leu209=
ENST00000514192.5:c.584T=	ENSP00000423685.1:p.Leu195=
ENST00000514224.1:c.371T=	ENSP00000425081.1:p.Leu124=
ENST00000514698.5:n.667T=
NM_000203.4:c.767T=	NP_000194.2:p.Leu256=
NR_110313.1:n.855T=
XM_006713882.2:c.371T=	XP_006713945.1:p.Leu124=
XM_011513459.1:c.626T=	XP_011511761.1:p.Leu209=
XM_011513460.1:c.626T=	XP_011511762.1:p.Leu209=
XM_011513461.1:c.560T=	XP_011511763.1:p.Leu187=
XM_011513462.1:c.479T=	XP_011511764.1:p.Leu160=
XM_011513463.1:c.479T=	XP_011511765.1:p.Leu160=
XR_924947.1:n.836T=
NM_000203.5:c.767T= MANE Select	NP_000194.2:p.Leu256=
NM_001363576.1:c.371T=	NP_001350505.1:p.Leu124=
XM_011513461.2:c.560T=	XP_011511763.1:p.Leu187=
XM_017008163.1:c.-194T=	XP_016863652.1:n.-194T=