Canonical Allele Identifier: CA1433068541

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002039C= , CM000666.2:g.1002039C=	GRCh38
NC_000004.11:g.995827C= , CM000666.1:g.995827C=	GRCh37
NC_000004.10:g.985827C=	NCBI36
NG_008103.1:g.20043C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.850C=	ENSP00000247933.4:p.Arg284=
ENST00000514224.2:c.850C= MANE Select	ENSP00000425081.2:p.Arg284=
ENST00000652070.1:n.906C=
ENST00000247933.8:c.850C=	ENSP00000247933.4:p.Arg284=
ENST00000514192.5:c.667C=	ENSP00000423685.1:p.Arg223=
ENST00000514224.1:c.454C=	ENSP00000425081.1:p.Arg152=
ENST00000514698.5:n.850C=
NM_000203.4:c.850C=	NP_000194.2:p.Arg284=
NR_110313.1:n.938C=
XM_006713882.2:c.454C=	XP_006713945.1:p.Arg152=
XM_011513459.1:c.809C=	XP_011511761.1:p.Pro270=
XM_011513460.1:c.709C=	XP_011511762.1:p.Arg237=
XM_011513461.1:c.643C=	XP_011511763.1:p.Arg215=
XM_011513462.1:c.562C=	XP_011511764.1:p.Arg188=
XM_011513463.1:c.562C=	XP_011511765.1:p.Arg188=
XR_924947.1:n.919C=
NM_000203.5:c.850C= MANE Select	NP_000194.2:p.Arg284=
NM_001363576.1:c.454C=	NP_001350505.1:p.Arg152=
XM_011513461.2:c.643C=	XP_011511763.1:p.Arg215=
XM_017008163.1:c.-111C=	XP_016863652.1:n.-111C=