Canonical Allele Identifier: CA1433068078

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001845G= , CM000666.2:g.1001845G=	GRCh38
NC_000004.11:g.995633G= , CM000666.1:g.995633G=	GRCh37
NC_000004.10:g.985633G=	NCBI36
NG_008103.1:g.19849G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.756G=	ENSP00000247933.4:p.Ala252=
ENST00000514224.2:c.756G= MANE Select	ENSP00000425081.2:p.Ala252=
ENST00000652070.1:n.812G=
ENST00000247933.8:c.756G=	ENSP00000247933.4:p.Ala252=
ENST00000502910.5:c.615G=	ENSP00000422952.1:p.Ala205=
ENST00000514192.5:c.573G=	ENSP00000423685.1:p.Ala191=
ENST00000514224.1:c.360G=	ENSP00000425081.1:p.Ala120=
ENST00000514698.5:n.656G=
NM_000203.4:c.756G=	NP_000194.2:p.Ala252=
NR_110313.1:n.844G=
XM_006713882.2:c.360G=	XP_006713945.1:p.Ala120=
XM_011513459.1:c.615G=	XP_011511761.1:p.Ala205=
XM_011513460.1:c.615G=	XP_011511762.1:p.Ala205=
XM_011513461.1:c.549G=	XP_011511763.1:p.Ala183=
XM_011513462.1:c.468G=	XP_011511764.1:p.Ala156=
XM_011513463.1:c.468G=	XP_011511765.1:p.Ala156=
XR_924947.1:n.825G=
NM_000203.5:c.756G= MANE Select	NP_000194.2:p.Ala252=
NM_001363576.1:c.360G=	NP_001350505.1:p.Ala120=
XM_011513461.2:c.549G=	XP_011511763.1:p.Ala183=
XM_017008163.1:c.-205G=	XP_016863652.1:n.-205G=