Canonical Allele Identifier: CA1433067669

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001685T= , CM000666.2:g.1001685T=	GRCh38
NC_000004.11:g.995473T= , CM000666.1:g.995473T=	GRCh37
NC_000004.10:g.985473T=	NCBI36
NG_008103.1:g.19689T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.596T=	ENSP00000247933.4:p.Leu199=
ENST00000514224.2:c.596T= MANE Select	ENSP00000425081.2:p.Leu199=
ENST00000652070.1:n.652T=
ENST00000247933.8:c.596T=	ENSP00000247933.4:p.Leu199=
ENST00000502910.5:c.455T=	ENSP00000422952.1:p.Leu152=
ENST00000504568.5:c.556T=
ENST00000509948.5:c.389T=	ENSP00000424227.1:p.Leu130=
ENST00000514192.5:c.413T=	ENSP00000423685.1:p.Leu138=
ENST00000514224.1:c.200T=	ENSP00000425081.1:p.Leu67=
ENST00000514698.5:n.496T=
NM_000203.4:c.596T=	NP_000194.2:p.Leu199=
NR_110313.1:n.684T=
XM_006713882.2:c.200T=	XP_006713945.1:p.Leu67=
XM_011513459.1:c.455T=	XP_011511761.1:p.Leu152=
XM_011513460.1:c.455T=	XP_011511762.1:p.Leu152=
XM_011513461.1:c.389T=	XP_011511763.1:p.Leu130=
XM_011513462.1:c.308T=	XP_011511764.1:p.Leu103=
XM_011513463.1:c.308T=	XP_011511765.1:p.Leu103=
XR_924947.1:n.665T=
NM_000203.5:c.596T= MANE Select	NP_000194.2:p.Leu199=
NM_001363576.1:c.200T=	NP_001350505.1:p.Leu67=
XM_011513461.2:c.389T=	XP_011511763.1:p.Leu130=
XM_017008163.1:c.-365T=	XP_016863652.1:n.-365T=