Canonical Allele Identifier: CA1433067823

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001742T= , CM000666.2:g.1001742T=	GRCh38
NC_000004.11:g.995530T= , CM000666.1:g.995530T=	GRCh37
NC_000004.10:g.985530T=	NCBI36
NG_008103.1:g.19746T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.653T=	ENSP00000247933.4:p.Leu218=
ENST00000514224.2:c.653T= MANE Select	ENSP00000425081.2:p.Leu218=
ENST00000652070.1:n.709T=
ENST00000247933.8:c.653T=	ENSP00000247933.4:p.Leu218=
ENST00000502910.5:c.512T=	ENSP00000422952.1:p.Leu171=
ENST00000509948.5:c.446T=	ENSP00000424227.1:p.Leu149=
ENST00000514192.5:c.470T=	ENSP00000423685.1:p.Leu157=
ENST00000514224.1:c.257T=	ENSP00000425081.1:p.Leu86=
ENST00000514698.5:n.553T=
NM_000203.4:c.653T=	NP_000194.2:p.Leu218=
NR_110313.1:n.741T=
XM_006713882.2:c.257T=	XP_006713945.1:p.Leu86=
XM_011513459.1:c.512T=	XP_011511761.1:p.Leu171=
XM_011513460.1:c.512T=	XP_011511762.1:p.Leu171=
XM_011513461.1:c.446T=	XP_011511763.1:p.Leu149=
XM_011513462.1:c.365T=	XP_011511764.1:p.Leu122=
XM_011513463.1:c.365T=	XP_011511765.1:p.Leu122=
XR_924947.1:n.722T=
NM_000203.5:c.653T= MANE Select	NP_000194.2:p.Leu218=
NM_001363576.1:c.257T=	NP_001350505.1:p.Leu86=
XM_011513461.2:c.446T=	XP_011511763.1:p.Leu149=
XM_017008163.1:c.-308T=	XP_016863652.1:n.-308T=