Canonical Allele Identifier: CA1433067667

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001680C= , CM000666.2:g.1001680C=	GRCh38
NC_000004.11:g.995468C= , CM000666.1:g.995468C=	GRCh37
NC_000004.10:g.985468C=	NCBI36
NG_008103.1:g.19684C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.591C=	ENSP00000247933.4:p.Gly197=
ENST00000514224.2:c.591C= MANE Select	ENSP00000425081.2:p.Gly197=
ENST00000652070.1:n.647C=
ENST00000247933.8:c.591C=	ENSP00000247933.4:p.Gly197=
ENST00000502910.5:c.450C=	ENSP00000422952.1:p.Gly150=
ENST00000504568.5:c.551C=
ENST00000509948.5:c.384C=	ENSP00000424227.1:p.Gly128=
ENST00000514192.5:c.408C=	ENSP00000423685.1:p.Gly136=
ENST00000514224.1:c.195C=	ENSP00000425081.1:p.Gly65=
ENST00000514698.5:n.491C=
NM_000203.4:c.591C=	NP_000194.2:p.Gly197=
NR_110313.1:n.679C=
XM_006713882.2:c.195C=	XP_006713945.1:p.Gly65=
XM_011513459.1:c.450C=	XP_011511761.1:p.Gly150=
XM_011513460.1:c.450C=	XP_011511762.1:p.Gly150=
XM_011513461.1:c.384C=	XP_011511763.1:p.Gly128=
XM_011513462.1:c.303C=	XP_011511764.1:p.Gly101=
XM_011513463.1:c.303C=	XP_011511765.1:p.Gly101=
XR_924947.1:n.660C=
NM_000203.5:c.591C= MANE Select	NP_000194.2:p.Gly197=
NM_001363576.1:c.195C=	NP_001350505.1:p.Gly65=
XM_011513461.2:c.384C=	XP_011511763.1:p.Gly128=
XM_017008163.1:c.-370C=	XP_016863652.1:n.-370C=