Canonical Allele Identifier: CA1433073276

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004393A= , CM000666.2:g.1004393A=	GRCh38
NC_000004.11:g.998181A= , CM000666.1:g.998181A=	GRCh37
NC_000004.10:g.988181A=	NCBI36
NG_008103.1:g.22397A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1962A= MANE Select	NP_000194.2:p.Ter654=
ENST00000514224.2:c.1962A= MANE Select	ENSP00000425081.2:p.Ter654=
NM_000203.4:c.1962A=	NP_000194.2:p.Ter654=
NM_001363576.1:c.1566A=	NP_001350505.1:p.Ter522=
NR_110313.1:n.2054A=
ENST00000247933.8:c.1962A=	ENSP00000247933.4:p.Ter654=
ENST00000247933.9:c.1962A=	ENSP00000247933.4:p.Ter654=
ENST00000514224.1:c.1566A=	ENSP00000425081.1:p.Ter522=
ENST00000514698.5:n.2073A=
ENST00000652070.1:n.2018A=
XM_006713882.2:c.1566A=	XP_006713945.1:p.Ter522=
XM_011513459.1:c.2028A=	XP_011511761.1:p.Ter676=
XM_011513460.1:c.1821A=	XP_011511762.1:p.Ter607=
XM_011513461.1:c.1755A=	XP_011511763.1:p.Ter585=
XM_011513461.2:c.1755A=	XP_011511763.1:p.Ter585=
XM_011513462.1:c.1674A=	XP_011511764.1:p.Ter558=
XM_011513463.1:c.1674A=	XP_011511765.1:p.Ter558=
XM_017008163.1:c.1002A=	XP_016863652.1:p.Ter334=
XR_924947.1:n.2222A=