Canonical Allele Identifier: CA1433069044

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002294T= , CM000666.2:g.1002294T=	GRCh38
NC_000004.11:g.996082T= , CM000666.1:g.996082T=	GRCh37
NC_000004.10:g.986082T=	NCBI36
NG_008103.1:g.20298T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.998T=	ENSP00000247933.4:p.Leu333=
ENST00000514224.2:c.998T= MANE Select	ENSP00000425081.2:p.Leu333=
ENST00000652070.1:n.1054T=
ENST00000247933.8:c.998T=	ENSP00000247933.4:p.Leu333=
ENST00000514224.1:c.602T=	ENSP00000425081.1:p.Leu201=
ENST00000514698.5:n.1105T=
NM_000203.4:c.998T=	NP_000194.2:p.Leu333=
NR_110313.1:n.1086T=
XM_006713882.2:c.602T=	XP_006713945.1:p.Leu201=
XM_011513459.1:c.1064T=	XP_011511761.1:p.Leu355=
XM_011513460.1:c.857T=	XP_011511762.1:p.Leu286=
XM_011513461.1:c.791T=	XP_011511763.1:p.Leu264=
XM_011513462.1:c.710T=	XP_011511764.1:p.Leu237=
XM_011513463.1:c.710T=	XP_011511765.1:p.Leu237=
XR_924947.1:n.1067T=
NM_000203.5:c.998T= MANE Select	NP_000194.2:p.Leu333=
NM_001363576.1:c.602T=	NP_001350505.1:p.Leu201=
XM_011513461.2:c.791T=	XP_011511763.1:p.Leu264=
XM_017008163.1:c.38T=	XP_016863652.1:p.Leu13=