Canonical Allele Identifier: CA1433068759

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002135G= , CM000666.2:g.1002135G=	GRCh38
NC_000004.11:g.995923G= , CM000666.1:g.995923G=	GRCh37
NC_000004.10:g.985923G=	NCBI36
NG_008103.1:g.20139G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.946G=	ENSP00000247933.4:p.Val316=
ENST00000514224.2:c.946G= MANE Select	ENSP00000425081.2:p.Val316=
ENST00000652070.1:n.1002G=
ENST00000247933.8:c.946G=	ENSP00000247933.4:p.Val316=
ENST00000514224.1:c.550G=	ENSP00000425081.1:p.Val184=
ENST00000514698.5:n.946G=
NM_000203.4:c.946G=	NP_000194.2:p.Val316=
NR_110313.1:n.1034G=
XM_006713882.2:c.550G=	XP_006713945.1:p.Val184=
XM_011513459.1:c.905G=	XP_011511761.1:p.Arg302=
XM_011513460.1:c.805G=	XP_011511762.1:p.Val269=
XM_011513461.1:c.739G=	XP_011511763.1:p.Val247=
XM_011513462.1:c.658G=	XP_011511764.1:p.Val220=
XM_011513463.1:c.658G=	XP_011511765.1:p.Val220=
XR_924947.1:n.1015G=
NM_000203.5:c.946G= MANE Select	NP_000194.2:p.Val316=
NM_001363576.1:c.550G=	NP_001350505.1:p.Val184=
XM_011513461.2:c.739G=	XP_011511763.1:p.Val247=
XM_017008163.1:c.-15G=	XP_016863652.1:n.-15G=