Canonical Allele Identifier: CA1433069098

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002325C= , CM000666.2:g.1002325C=	GRCh38
NC_000004.11:g.996113C= , CM000666.1:g.996113C=	GRCh37
NC_000004.10:g.986113C=	NCBI36
NG_008103.1:g.20329C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1029C= MANE Select	NP_000194.2:p.Tyr343=
ENST00000514224.2:c.1029C= MANE Select	ENSP00000425081.2:p.Tyr343=
NM_000203.4:c.1029C=	NP_000194.2:p.Tyr343=
NM_001363576.1:c.633C=	NP_001350505.1:p.Tyr211=
NR_110313.1:n.1117C=
ENST00000247933.8:c.1029C=	ENSP00000247933.4:p.Tyr343=
ENST00000247933.9:c.1029C=	ENSP00000247933.4:p.Tyr343=
ENST00000514224.1:c.633C=	ENSP00000425081.1:p.Tyr211=
ENST00000514698.5:n.1136C=
ENST00000652070.1:n.1085C=
XM_006713882.2:c.633C=	XP_006713945.1:p.Tyr211=
XM_011513459.1:c.1095C=	XP_011511761.1:p.Tyr365=
XM_011513460.1:c.888C=	XP_011511762.1:p.Tyr296=
XM_011513461.1:c.822C=	XP_011511763.1:p.Tyr274=
XM_011513461.2:c.822C=	XP_011511763.1:p.Tyr274=
XM_011513462.1:c.741C=	XP_011511764.1:p.Tyr247=
XM_011513463.1:c.741C=	XP_011511765.1:p.Tyr247=
XM_017008163.1:c.69C=	XP_016863652.1:p.Tyr23=
XR_924947.1:n.1098C=