Canonical Allele Identifier: CA1433068859
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002196C= , CM000666.2:g.1002196C= GRCh38
NC_000004.11:g.995984C= , CM000666.1:g.995984C= GRCh37
NC_000004.10:g.985984C= NCBI36
NG_008103.1:g.20200C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.972+35C= ENSP00000247933.4:n.972+35C=
ENST00000514224.2:c.972+35C= MANE Select ENSP00000425081.2:n.972+35C=
ENST00000652070.1:n.1028+35C=
ENST00000247933.8:c.972+35C= ENSP00000247933.4:n.972+35C=
ENST00000514224.1:c.576+35C= ENSP00000425081.1:n.576+35C=
ENST00000514698.5:n.1007C=
NM_000203.4:c.972+35C= NP_000194.2:n.972+35C=
NR_110313.1:n.1060+35C=
XM_006713882.2:c.576+35C= XP_006713945.1:n.576+35C=
XM_011513459.1:c.966C= XP_011511761.1:p.Ala322=
XM_011513460.1:c.831+35C= XP_011511762.1:n.831+35C=
XM_011513461.1:c.765+35C= XP_011511763.1:n.765+35C=
XM_011513462.1:c.684+35C= XP_011511764.1:n.684+35C=
XM_011513463.1:c.684+35C= XP_011511765.1:n.684+35C=
XR_924947.1:n.1041+35C=
NM_000203.5:c.972+35C= MANE Select NP_000194.2:n.972+35C=
NM_001363576.1:c.576+35C= NP_001350505.1:n.576+35C=
XM_011513461.2:c.765+35C= XP_011511763.1:n.765+35C=
XM_017008163.1:c.12+35C= XP_016863652.1:n.12+35C=