Canonical Allele Identifier: CA1433068524

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002031A= , CM000666.2:g.1002031A=	GRCh38
NC_000004.11:g.995819A= , CM000666.1:g.995819A=	GRCh37
NC_000004.10:g.985819A=	NCBI36
NG_008103.1:g.20035A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.842A=	ENSP00000247933.4:p.Gln281=
ENST00000514224.2:c.842A= MANE Select	ENSP00000425081.2:p.Gln281=
ENST00000652070.1:n.898A=
ENST00000247933.8:c.842A=	ENSP00000247933.4:p.Gln281=
ENST00000514192.5:c.659A=	ENSP00000423685.1:p.Gln220=
ENST00000514224.1:c.446A=	ENSP00000425081.1:p.Gln149=
ENST00000514698.5:n.842A=
NM_000203.4:c.842A=	NP_000194.2:p.Gln281=
NR_110313.1:n.930A=
XM_006713882.2:c.446A=	XP_006713945.1:p.Gln149=
XM_011513459.1:c.801A=	XP_011511761.1:p.Ala267=
XM_011513460.1:c.701A=	XP_011511762.1:p.Gln234=
XM_011513461.1:c.635A=	XP_011511763.1:p.Gln212=
XM_011513462.1:c.554A=	XP_011511764.1:p.Gln185=
XM_011513463.1:c.554A=	XP_011511765.1:p.Gln185=
XR_924947.1:n.911A=
NM_000203.5:c.842A= MANE Select	NP_000194.2:p.Gln281=
NM_001363576.1:c.446A=	NP_001350505.1:p.Gln149=
XM_011513461.2:c.635A=	XP_011511763.1:p.Gln212=
XM_017008163.1:c.-119A=	XP_016863652.1:n.-119A=