Canonical Allele Identifier: CA1433069020

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002280G= , CM000666.2:g.1002280G=	GRCh38
NC_000004.11:g.996068G= , CM000666.1:g.996068G=	GRCh37
NC_000004.10:g.986068G=	NCBI36
NG_008103.1:g.20284G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.984G=	ENSP00000247933.4:p.Gln328=
ENST00000514224.2:c.984G= MANE Select	ENSP00000425081.2:p.Gln328=
ENST00000652070.1:n.1040G=
ENST00000247933.8:c.984G=	ENSP00000247933.4:p.Gln328=
ENST00000514224.1:c.588G=	ENSP00000425081.1:p.Gln196=
ENST00000514698.5:n.1091G=
NM_000203.4:c.984G=	NP_000194.2:p.Gln328=
NR_110313.1:n.1072G=
XM_006713882.2:c.588G=	XP_006713945.1:p.Gln196=
XM_011513459.1:c.1050G=	XP_011511761.1:p.Gln350=
XM_011513460.1:c.843G=	XP_011511762.1:p.Gln281=
XM_011513461.1:c.777G=	XP_011511763.1:p.Gln259=
XM_011513462.1:c.696G=	XP_011511764.1:p.Gln232=
XM_011513463.1:c.696G=	XP_011511765.1:p.Gln232=
XR_924947.1:n.1053G=
NM_000203.5:c.984G= MANE Select	NP_000194.2:p.Gln328=
NM_001363576.1:c.588G=	NP_001350505.1:p.Gln196=
XM_011513461.2:c.777G=	XP_011511763.1:p.Gln259=
XM_017008163.1:c.24G=	XP_016863652.1:p.Gln8=