Canonical Allele Identifier: CA1433067318

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001497T= , CM000666.2:g.1001497T=	GRCh38
NC_000004.11:g.995285T= , CM000666.1:g.995285T=	GRCh37
NC_000004.10:g.985285T=	NCBI36
NG_008103.1:g.19501T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.523T= MANE Select	NP_000194.2:p.Trp175=
ENST00000514224.2:c.523T= MANE Select	ENSP00000425081.2:p.Trp175=
NM_000203.4:c.523T=	NP_000194.2:p.Trp175=
NM_001363576.1:c.127T=	NP_001350505.1:p.Trp43=
NR_110313.1:n.611T=
ENST00000247933.8:c.523T=	ENSP00000247933.4:p.Trp175=
ENST00000247933.9:c.523T=	ENSP00000247933.4:p.Trp175=
ENST00000502910.5:c.382T=	ENSP00000422952.1:p.Trp128=
ENST00000504568.5:c.483T=
ENST00000509948.5:c.316T=	ENSP00000424227.1:p.Trp106=
ENST00000514192.5:c.340T=	ENSP00000423685.1:p.Trp114=
ENST00000514224.1:c.127T=	ENSP00000425081.1:p.Trp43=
ENST00000514698.5:n.423T=
ENST00000652070.1:n.579T=
XM_006713882.2:c.127T=	XP_006713945.1:p.Trp43=
XM_011513459.1:c.382T=	XP_011511761.1:p.Trp128=
XM_011513460.1:c.382T=	XP_011511762.1:p.Trp128=
XM_011513461.1:c.316T=	XP_011511763.1:p.Trp106=
XM_011513461.2:c.316T=	XP_011511763.1:p.Trp106=
XM_011513462.1:c.235T=	XP_011511764.1:p.Trp79=
XM_011513463.1:c.235T=	XP_011511765.1:p.Trp79=
XM_017008163.1:c.-466T=	XP_016863652.1:n.-466T=
XR_924947.1:n.592T=