Canonical Allele Identifier: CA1433068810

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002158G= , CM000666.2:g.1002158G=	GRCh38
NC_000004.11:g.995946G= , CM000666.1:g.995946G=	GRCh37
NC_000004.10:g.985946G=	NCBI36
NG_008103.1:g.20162G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.969G=	ENSP00000247933.4:p.Val323=
ENST00000514224.2:c.969G= MANE Select	ENSP00000425081.2:p.Val323=
ENST00000652070.1:n.1025G=
ENST00000247933.8:c.969G=	ENSP00000247933.4:p.Val323=
ENST00000514224.1:c.573G=	ENSP00000425081.1:p.Val191=
ENST00000514698.5:n.969G=
NM_000203.4:c.969G=	NP_000194.2:p.Val323=
NR_110313.1:n.1057G=
XM_006713882.2:c.573G=	XP_006713945.1:p.Val191=
XM_011513459.1:c.928G=	XP_011511761.1:p.Glu310=
XM_011513460.1:c.828G=	XP_011511762.1:p.Val276=
XM_011513461.1:c.762G=	XP_011511763.1:p.Val254=
XM_011513462.1:c.681G=	XP_011511764.1:p.Val227=
XM_011513463.1:c.681G=	XP_011511765.1:p.Val227=
XR_924947.1:n.1038G=
NM_000203.5:c.969G= MANE Select	NP_000194.2:p.Val323=
NM_001363576.1:c.573G=	NP_001350505.1:p.Val191=
XM_011513461.2:c.762G=	XP_011511763.1:p.Val254=
XM_017008163.1:c.9G=	XP_016863652.1:p.Val3=