Canonical Allele Identifier: CA1433072205

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003596G= , CM000666.2:g.1003596G=	GRCh38
NC_000004.11:g.997384G= , CM000666.1:g.997384G=	GRCh37
NC_000004.10:g.987384G=	NCBI36
NG_008103.1:g.21600G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1698G=	ENSP00000247933.4:p.Leu566=
ENST00000514224.2:c.1698G= MANE Select	ENSP00000425081.2:p.Leu566=
ENST00000652070.1:n.1754G=
ENST00000247933.8:c.1698G=	ENSP00000247933.4:p.Leu566=
ENST00000514224.1:c.1302G=	ENSP00000425081.1:p.Leu434=
ENST00000514417.1:n.90G=
ENST00000514698.5:n.1805G=
NM_000203.4:c.1698G=	NP_000194.2:p.Leu566=
NR_110313.1:n.1786G=
XM_006713882.2:c.1302G=	XP_006713945.1:p.Leu434=
XM_011513459.1:c.1764G=	XP_011511761.1:p.Leu588=
XM_011513460.1:c.1557G=	XP_011511762.1:p.Leu519=
XM_011513461.1:c.1491G=	XP_011511763.1:p.Leu497=
XM_011513462.1:c.1410G=	XP_011511764.1:p.Leu470=
XM_011513463.1:c.1410G=	XP_011511765.1:p.Leu470=
XR_924947.1:n.1954G=
NM_000203.5:c.1698G= MANE Select	NP_000194.2:p.Leu566=
NM_001363576.1:c.1302G=	NP_001350505.1:p.Leu434=
XM_011513461.2:c.1491G=	XP_011511763.1:p.Leu497=
XM_017008163.1:c.738G=	XP_016863652.1:p.Leu246=