Canonical Allele Identifier: CA1433067436

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001535C= , CM000666.2:g.1001535C=	GRCh38
NC_000004.11:g.995323C= , CM000666.1:g.995323C=	GRCh37
NC_000004.10:g.985323C=	NCBI36
NG_008103.1:g.19539C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.561C=	ENSP00000247933.4:p.Asp187=
ENST00000514224.2:c.561C= MANE Select	ENSP00000425081.2:p.Asp187=
ENST00000652070.1:n.617C=
ENST00000247933.8:c.561C=	ENSP00000247933.4:p.Asp187=
ENST00000502910.5:c.420C=	ENSP00000422952.1:p.Asp140=
ENST00000504568.5:c.521C=
ENST00000509948.5:c.354C=	ENSP00000424227.1:p.Asp118=
ENST00000514192.5:c.378C=	ENSP00000423685.1:p.Asp126=
ENST00000514224.1:c.165C=	ENSP00000425081.1:p.Asp55=
ENST00000514698.5:n.461C=
NM_000203.4:c.561C=	NP_000194.2:p.Asp187=
NR_110313.1:n.649C=
XM_006713882.2:c.165C=	XP_006713945.1:p.Asp55=
XM_011513459.1:c.420C=	XP_011511761.1:p.Asp140=
XM_011513460.1:c.420C=	XP_011511762.1:p.Asp140=
XM_011513461.1:c.354C=	XP_011511763.1:p.Asp118=
XM_011513462.1:c.273C=	XP_011511764.1:p.Asp91=
XM_011513463.1:c.273C=	XP_011511765.1:p.Asp91=
XR_924947.1:n.630C=
NM_000203.5:c.561C= MANE Select	NP_000194.2:p.Asp187=
NM_001363576.1:c.165C=	NP_001350505.1:p.Asp55=
XM_011513461.2:c.354C=	XP_011511763.1:p.Asp118=
XM_017008163.1:c.-428C=	XP_016863652.1:n.-428C=