Canonical Allele Identifier: CA1433068781

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002143C= , CM000666.2:g.1002143C=	GRCh38
NC_000004.11:g.995931C= , CM000666.1:g.995931C=	GRCh37
NC_000004.10:g.985931C=	NCBI36
NG_008103.1:g.20147C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.954C=	ENSP00000247933.4:p.Tyr318=
ENST00000514224.2:c.954C= MANE Select	ENSP00000425081.2:p.Tyr318=
ENST00000652070.1:n.1010C=
ENST00000247933.8:c.954C=	ENSP00000247933.4:p.Tyr318=
ENST00000514224.1:c.558C=	ENSP00000425081.1:p.Tyr186=
ENST00000514698.5:n.954C=
NM_000203.4:c.954C=	NP_000194.2:p.Tyr318=
NR_110313.1:n.1042C=
XM_006713882.2:c.558C=	XP_006713945.1:p.Tyr186=
XM_011513459.1:c.913C=	XP_011511761.1:p.Arg305=
XM_011513460.1:c.813C=	XP_011511762.1:p.Tyr271=
XM_011513461.1:c.747C=	XP_011511763.1:p.Tyr249=
XM_011513462.1:c.666C=	XP_011511764.1:p.Tyr222=
XM_011513463.1:c.666C=	XP_011511765.1:p.Tyr222=
XR_924947.1:n.1023C=
NM_000203.5:c.954C= MANE Select	NP_000194.2:p.Tyr318=
NM_001363576.1:c.558C=	NP_001350505.1:p.Tyr186=
XM_011513461.2:c.747C=	XP_011511763.1:p.Tyr249=
XM_017008163.1:c.-7C=	XP_016863652.1:n.-7C=