Canonical Allele Identifier: CA1433068169

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001872C= , CM000666.2:g.1001872C=	GRCh38
NC_000004.11:g.995660C= , CM000666.1:g.995660C=	GRCh37
NC_000004.10:g.985660C=	NCBI36
NG_008103.1:g.19876C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.783C=	ENSP00000247933.4:p.Leu261=
ENST00000514224.2:c.783C= MANE Select	ENSP00000425081.2:p.Leu261=
ENST00000652070.1:n.839C=
ENST00000247933.8:c.783C=	ENSP00000247933.4:p.Leu261=
ENST00000502910.5:c.642C=	ENSP00000422952.1:p.Leu214=
ENST00000514192.5:c.600C=	ENSP00000423685.1:p.Leu200=
ENST00000514224.1:c.387C=	ENSP00000425081.1:p.Leu129=
ENST00000514698.5:n.683C=
NM_000203.4:c.783C=	NP_000194.2:p.Leu261=
NR_110313.1:n.871C=
XM_006713882.2:c.387C=	XP_006713945.1:p.Leu129=
XM_011513459.1:c.642C=	XP_011511761.1:p.Leu214=
XM_011513460.1:c.642C=	XP_011511762.1:p.Leu214=
XM_011513461.1:c.576C=	XP_011511763.1:p.Leu192=
XM_011513462.1:c.495C=	XP_011511764.1:p.Leu165=
XM_011513463.1:c.495C=	XP_011511765.1:p.Leu165=
XR_924947.1:n.852C=
NM_000203.5:c.783C= MANE Select	NP_000194.2:p.Leu261=
NM_001363576.1:c.387C=	NP_001350505.1:p.Leu129=
XM_011513461.2:c.576C=	XP_011511763.1:p.Leu192=
XM_017008163.1:c.-178C=	XP_016863652.1:n.-178C=