Canonical Allele Identifier: CA1433068790

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002147G= , CM000666.2:g.1002147G=	GRCh38
NC_000004.11:g.995935G= , CM000666.1:g.995935G=	GRCh37
NC_000004.10:g.985935G=	NCBI36
NG_008103.1:g.20151G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.958G=	ENSP00000247933.4:p.Ala320=
ENST00000514224.2:c.958G= MANE Select	ENSP00000425081.2:p.Ala320=
ENST00000652070.1:n.1014G=
ENST00000247933.8:c.958G=	ENSP00000247933.4:p.Ala320=
ENST00000514224.1:c.562G=	ENSP00000425081.1:p.Ala188=
ENST00000514698.5:n.958G=
NM_000203.4:c.958G=	NP_000194.2:p.Ala320=
NR_110313.1:n.1046G=
XM_006713882.2:c.562G=	XP_006713945.1:p.Ala188=
XM_011513459.1:c.917G=	XP_011511761.1:p.Gly306=
XM_011513460.1:c.817G=	XP_011511762.1:p.Ala273=
XM_011513461.1:c.751G=	XP_011511763.1:p.Ala251=
XM_011513462.1:c.670G=	XP_011511764.1:p.Ala224=
XM_011513463.1:c.670G=	XP_011511765.1:p.Ala224=
XR_924947.1:n.1027G=
NM_000203.5:c.958G= MANE Select	NP_000194.2:p.Ala320=
NM_001363576.1:c.562G=	NP_001350505.1:p.Ala188=
XM_011513461.2:c.751G=	XP_011511763.1:p.Ala251=
XM_017008163.1:c.-3G=	XP_016863652.1:n.-3G=