Canonical Allele Identifier: CA1433071916
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003479C= , CM000666.2:g.1003479C= GRCh38
NC_000004.11:g.997267C= , CM000666.1:g.997267C= GRCh37
NC_000004.10:g.987267C= NCBI36
NG_008103.1:g.21483C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1650+9C= ENSP00000247933.4:n.1650+9C=
ENST00000514224.2:c.1650+9C= MANE Select ENSP00000425081.2:n.1650+9C=
ENST00000652070.1:n.1706+9C=
ENST00000247933.8:c.1650+9C= ENSP00000247933.4:n.1650+9C=
ENST00000514224.1:c.1254+9C= ENSP00000425081.1:n.1254+9C=
ENST00000514417.1:n.42+9C=
ENST00000514698.5:n.1757+9C=
NM_000203.4:c.1650+9C= NP_000194.2:n.1650+9C=
NR_110313.1:n.1738+9C=
XM_006713882.2:c.1254+9C= XP_006713945.1:n.1254+9C=
XM_011513459.1:c.1716+9C= XP_011511761.1:n.1716+9C=
XM_011513460.1:c.1509+9C= XP_011511762.1:n.1509+9C=
XM_011513461.1:c.1443+9C= XP_011511763.1:n.1443+9C=
XM_011513462.1:c.1362+9C= XP_011511764.1:n.1362+9C=
XM_011513463.1:c.1362+9C= XP_011511765.1:n.1362+9C=
XR_924947.1:n.1906+9C=
NM_000203.5:c.1650+9C= MANE Select NP_000194.2:n.1650+9C=
NM_001363576.1:c.1254+9C= NP_001350505.1:n.1254+9C=
XM_011513461.2:c.1443+9C= XP_011511763.1:n.1443+9C=
XM_017008163.1:c.690+9C= XP_016863652.1:n.690+9C=