Canonical Allele Identifier: CA1433067986

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001807C= , CM000666.2:g.1001807C=	GRCh38
NC_000004.11:g.995595C= , CM000666.1:g.995595C=	GRCh37
NC_000004.10:g.985595C=	NCBI36
NG_008103.1:g.19811C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.718C=	ENSP00000247933.4:p.His240=
ENST00000514224.2:c.718C= MANE Select	ENSP00000425081.2:p.His240=
ENST00000652070.1:n.774C=
ENST00000247933.8:c.718C=	ENSP00000247933.4:p.His240=
ENST00000502910.5:c.577C=	ENSP00000422952.1:p.His193=
ENST00000509948.5:c.511C=	ENSP00000424227.1:p.His171=
ENST00000514192.5:c.535C=	ENSP00000423685.1:p.His179=
ENST00000514224.1:c.322C=	ENSP00000425081.1:p.His108=
ENST00000514698.5:n.618C=
NM_000203.4:c.718C=	NP_000194.2:p.His240=
NR_110313.1:n.806C=
XM_006713882.2:c.322C=	XP_006713945.1:p.His108=
XM_011513459.1:c.577C=	XP_011511761.1:p.His193=
XM_011513460.1:c.577C=	XP_011511762.1:p.His193=
XM_011513461.1:c.511C=	XP_011511763.1:p.His171=
XM_011513462.1:c.430C=	XP_011511764.1:p.His144=
XM_011513463.1:c.430C=	XP_011511765.1:p.His144=
XR_924947.1:n.787C=
NM_000203.5:c.718C= MANE Select	NP_000194.2:p.His240=
NM_001363576.1:c.322C=	NP_001350505.1:p.His108=
XM_011513461.2:c.511C=	XP_011511763.1:p.His171=
XM_017008163.1:c.-243C=	XP_016863652.1:n.-243C=