Canonical Allele Identifier: CA1433072123

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003569G= , CM000666.2:g.1003569G=	GRCh38
NC_000004.11:g.997357G= , CM000666.1:g.997357G=	GRCh37
NC_000004.10:g.987357G=	NCBI36
NG_008103.1:g.21573G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1671G=	ENSP00000247933.4:p.Leu557=
ENST00000514224.2:c.1671G= MANE Select	ENSP00000425081.2:p.Leu557=
ENST00000652070.1:n.1727G=
ENST00000247933.8:c.1671G=	ENSP00000247933.4:p.Leu557=
ENST00000514224.1:c.1275G=	ENSP00000425081.1:p.Leu425=
ENST00000514417.1:n.63G=
ENST00000514698.5:n.1778G=
NM_000203.4:c.1671G=	NP_000194.2:p.Leu557=
NR_110313.1:n.1759G=
XM_006713882.2:c.1275G=	XP_006713945.1:p.Leu425=
XM_011513459.1:c.1737G=	XP_011511761.1:p.Leu579=
XM_011513460.1:c.1530G=	XP_011511762.1:p.Leu510=
XM_011513461.1:c.1464G=	XP_011511763.1:p.Leu488=
XM_011513462.1:c.1383G=	XP_011511764.1:p.Leu461=
XM_011513463.1:c.1383G=	XP_011511765.1:p.Leu461=
XR_924947.1:n.1927G=
NM_000203.5:c.1671G= MANE Select	NP_000194.2:p.Leu557=
NM_001363576.1:c.1275G=	NP_001350505.1:p.Leu425=
XM_011513461.2:c.1464G=	XP_011511763.1:p.Leu488=
XM_017008163.1:c.711G=	XP_016863652.1:p.Leu237=