Canonical Allele Identifier: CA1433072139

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003575G= , CM000666.2:g.1003575G=	GRCh38
NC_000004.11:g.997363G= , CM000666.1:g.997363G=	GRCh37
NC_000004.10:g.987363G=	NCBI36
NG_008103.1:g.21579G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1677G=	ENSP00000247933.4:p.Leu559=
ENST00000514224.2:c.1677G= MANE Select	ENSP00000425081.2:p.Leu559=
ENST00000652070.1:n.1733G=
ENST00000247933.8:c.1677G=	ENSP00000247933.4:p.Leu559=
ENST00000514224.1:c.1281G=	ENSP00000425081.1:p.Leu427=
ENST00000514417.1:n.69G=
ENST00000514698.5:n.1784G=
NM_000203.4:c.1677G=	NP_000194.2:p.Leu559=
NR_110313.1:n.1765G=
XM_006713882.2:c.1281G=	XP_006713945.1:p.Leu427=
XM_011513459.1:c.1743G=	XP_011511761.1:p.Leu581=
XM_011513460.1:c.1536G=	XP_011511762.1:p.Leu512=
XM_011513461.1:c.1470G=	XP_011511763.1:p.Leu490=
XM_011513462.1:c.1389G=	XP_011511764.1:p.Leu463=
XM_011513463.1:c.1389G=	XP_011511765.1:p.Leu463=
XR_924947.1:n.1933G=
NM_000203.5:c.1677G= MANE Select	NP_000194.2:p.Leu559=
NM_001363576.1:c.1281G=	NP_001350505.1:p.Leu427=
XM_011513461.2:c.1470G=	XP_011511763.1:p.Leu490=
XM_017008163.1:c.717G=	XP_016863652.1:p.Leu239=