Canonical Allele Identifier: CA1433068770

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002137G= , CM000666.2:g.1002137G=	GRCh38
NC_000004.11:g.995925G= , CM000666.1:g.995925G=	GRCh37
NC_000004.10:g.985925G=	NCBI36
NG_008103.1:g.20141G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.948G=	ENSP00000247933.4:p.Val316=
ENST00000514224.2:c.948G= MANE Select	ENSP00000425081.2:p.Val316=
ENST00000652070.1:n.1004G=
ENST00000247933.8:c.948G=	ENSP00000247933.4:p.Val316=
ENST00000514224.1:c.552G=	ENSP00000425081.1:p.Val184=
ENST00000514698.5:n.948G=
NM_000203.4:c.948G=	NP_000194.2:p.Val316=
NR_110313.1:n.1036G=
XM_006713882.2:c.552G=	XP_006713945.1:p.Val184=
XM_011513459.1:c.907G=	XP_011511761.1:p.Asp303=
XM_011513460.1:c.807G=	XP_011511762.1:p.Val269=
XM_011513461.1:c.741G=	XP_011511763.1:p.Val247=
XM_011513462.1:c.660G=	XP_011511764.1:p.Val220=
XM_011513463.1:c.660G=	XP_011511765.1:p.Val220=
XR_924947.1:n.1017G=
NM_000203.5:c.948G= MANE Select	NP_000194.2:p.Val316=
NM_001363576.1:c.552G=	NP_001350505.1:p.Val184=
XM_011513461.2:c.741G=	XP_011511763.1:p.Val247=
XM_017008163.1:c.-13G=	XP_016863652.1:n.-13G=