Canonical Allele Identifier: CA1433072040
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003535C= , CM000666.2:g.1003535C= GRCh38
NC_000004.11:g.997323C= , CM000666.1:g.997323C= GRCh37
NC_000004.10:g.987323C= NCBI36
NG_008103.1:g.21539C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1651-14C= ENSP00000247933.4:n.1651-14C=
ENST00000514224.2:c.1651-14C= MANE Select ENSP00000425081.2:n.1651-14C=
ENST00000652070.1:n.1707-14C=
ENST00000247933.8:c.1651-14C= ENSP00000247933.4:n.1651-14C=
ENST00000514224.1:c.1255-14C= ENSP00000425081.1:n.1255-14C=
ENST00000514417.1:n.43-14C=
ENST00000514698.5:n.1758-14C=
NM_000203.4:c.1651-14C= NP_000194.2:n.1651-14C=
NR_110313.1:n.1739-14C=
XM_006713882.2:c.1255-14C= XP_006713945.1:n.1255-14C=
XM_011513459.1:c.1717-14C= XP_011511761.1:n.1717-14C=
XM_011513460.1:c.1510-14C= XP_011511762.1:n.1510-14C=
XM_011513461.1:c.1444-14C= XP_011511763.1:n.1444-14C=
XM_011513462.1:c.1363-14C= XP_011511764.1:n.1363-14C=
XM_011513463.1:c.1363-14C= XP_011511765.1:n.1363-14C=
XR_924947.1:n.1907-14C=
NM_000203.5:c.1651-14C= MANE Select NP_000194.2:n.1651-14C=
NM_001363576.1:c.1255-14C= NP_001350505.1:n.1255-14C=
XM_011513461.2:c.1444-14C= XP_011511763.1:n.1444-14C=
XM_017008163.1:c.691-14C= XP_016863652.1:n.691-14C=