Canonical Allele Identifier: CA1433071360

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003151G= , CM000666.2:g.1003151G=	GRCh38
NC_000004.11:g.996939G= , CM000666.1:g.996939G=	GRCh37
NC_000004.10:g.986939G=	NCBI36
NG_008103.1:g.21155G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1518G=	ENSP00000247933.4:p.Ala506=
ENST00000514224.2:c.1518G= MANE Select	ENSP00000425081.2:p.Ala506=
ENST00000652070.1:n.1574G=
ENST00000247933.8:c.1518G=	ENSP00000247933.4:p.Ala506=
ENST00000502829.1:n.320G=
ENST00000514224.1:c.1122G=	ENSP00000425081.1:p.Ala374=
ENST00000514698.5:n.1625G=
NM_000203.4:c.1518G=	NP_000194.2:p.Ala506=
NR_110313.1:n.1606G=
XM_006713882.2:c.1122G=	XP_006713945.1:p.Ala374=
XM_011513459.1:c.1584G=	XP_011511761.1:p.Ala528=
XM_011513460.1:c.1377G=	XP_011511762.1:p.Ala459=
XM_011513461.1:c.1311G=	XP_011511763.1:p.Ala437=
XM_011513462.1:c.1230G=	XP_011511764.1:p.Ala410=
XM_011513463.1:c.1230G=	XP_011511765.1:p.Ala410=
XR_924947.1:n.1587G=
NM_000203.5:c.1518G= MANE Select	NP_000194.2:p.Ala506=
NM_001363576.1:c.1122G=	NP_001350505.1:p.Ala374=
XM_011513461.2:c.1311G=	XP_011511763.1:p.Ala437=
XM_017008163.1:c.558G=	XP_016863652.1:p.Ala186=