Canonical Allele Identifier: CA1433067271

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001475C= , CM000666.2:g.1001475C=	GRCh38
NC_000004.11:g.995263C= , CM000666.1:g.995263C=	GRCh37
NC_000004.10:g.985263C=	NCBI36
NG_008103.1:g.19479C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.501C= MANE Select	NP_000194.2:p.Tyr167=
ENST00000514224.2:c.501C= MANE Select	ENSP00000425081.2:p.Tyr167=
NM_000203.4:c.501C=	NP_000194.2:p.Tyr167=
NM_001363576.1:c.105C=	NP_001350505.1:p.Tyr35=
NR_110313.1:n.589C=
ENST00000247933.8:c.501C=	ENSP00000247933.4:p.Tyr167=
ENST00000247933.9:c.501C=	ENSP00000247933.4:p.Tyr167=
ENST00000502910.5:c.360C=	ENSP00000422952.1:p.Tyr120=
ENST00000504568.5:c.461C=
ENST00000509948.5:c.294C=	ENSP00000424227.1:p.Tyr98=
ENST00000514192.5:c.318C=	ENSP00000423685.1:p.Tyr106=
ENST00000514224.1:c.105C=	ENSP00000425081.1:p.Tyr35=
ENST00000514698.5:n.401C=
ENST00000652070.1:n.557C=
XM_006713882.2:c.105C=	XP_006713945.1:p.Tyr35=
XM_011513459.1:c.360C=	XP_011511761.1:p.Tyr120=
XM_011513460.1:c.360C=	XP_011511762.1:p.Tyr120=
XM_011513461.1:c.294C=	XP_011511763.1:p.Tyr98=
XM_011513461.2:c.294C=	XP_011511763.1:p.Tyr98=
XM_011513462.1:c.213C=	XP_011511764.1:p.Tyr71=
XM_011513463.1:c.213C=	XP_011511765.1:p.Tyr71=
XM_017008163.1:c.-488C=	XP_016863652.1:n.-488C=
XR_924947.1:n.570C=