Canonical Allele Identifier: CA1433067747

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001717C= , CM000666.2:g.1001717C=	GRCh38
NC_000004.11:g.995505C= , CM000666.1:g.995505C=	GRCh37
NC_000004.10:g.985505C=	NCBI36
NG_008103.1:g.19721C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.628C=	ENSP00000247933.4:p.Arg210=
ENST00000514224.2:c.628C= MANE Select	ENSP00000425081.2:p.Arg210=
ENST00000652070.1:n.684C=
ENST00000247933.8:c.628C=	ENSP00000247933.4:p.Arg210=
ENST00000502910.5:c.487C=	ENSP00000422952.1:p.Arg163=
ENST00000509948.5:c.421C=	ENSP00000424227.1:p.Arg141=
ENST00000514192.5:c.445C=	ENSP00000423685.1:p.Arg149=
ENST00000514224.1:c.232C=	ENSP00000425081.1:p.Arg78=
ENST00000514698.5:n.528C=
NM_000203.4:c.628C=	NP_000194.2:p.Arg210=
NR_110313.1:n.716C=
XM_006713882.2:c.232C=	XP_006713945.1:p.Arg78=
XM_011513459.1:c.487C=	XP_011511761.1:p.Arg163=
XM_011513460.1:c.487C=	XP_011511762.1:p.Arg163=
XM_011513461.1:c.421C=	XP_011511763.1:p.Arg141=
XM_011513462.1:c.340C=	XP_011511764.1:p.Arg114=
XM_011513463.1:c.340C=	XP_011511765.1:p.Arg114=
XR_924947.1:n.697C=
NM_000203.5:c.628C= MANE Select	NP_000194.2:p.Arg210=
NM_001363576.1:c.232C=	NP_001350505.1:p.Arg78=
XM_011513461.2:c.421C=	XP_011511763.1:p.Arg141=
XM_017008163.1:c.-333C=	XP_016863652.1:n.-333C=