Canonical Allele Identifier: CA1433071729
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003336T= , CM000666.2:g.1003336T= GRCh38
NC_000004.11:g.997124T= , CM000666.1:g.997124T= GRCh37
NC_000004.10:g.987124T= NCBI36
NG_008103.1:g.21340T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1525-9T= ENSP00000247933.4:n.1525-9T=
ENST00000514224.2:c.1525-9T= MANE Select ENSP00000425081.2:n.1525-9T=
ENST00000652070.1:n.1581-9T=
ENST00000247933.8:c.1525-9T= ENSP00000247933.4:n.1525-9T=
ENST00000502829.1:n.505T=
ENST00000514224.1:c.1129-9T= ENSP00000425081.1:n.1129-9T=
ENST00000514698.5:n.1632-9T=
NM_000203.4:c.1525-9T= NP_000194.2:n.1525-9T=
NR_110313.1:n.1613-9T=
XM_006713882.2:c.1129-9T= XP_006713945.1:n.1129-9T=
XM_011513459.1:c.1591-9T= XP_011511761.1:n.1591-9T=
XM_011513460.1:c.1384-9T= XP_011511762.1:n.1384-9T=
XM_011513461.1:c.1318-9T= XP_011511763.1:n.1318-9T=
XM_011513462.1:c.1237-9T= XP_011511764.1:n.1237-9T=
XM_011513463.1:c.1237-9T= XP_011511765.1:n.1237-9T=
XR_924947.1:n.1772T=
NM_000203.5:c.1525-9T= MANE Select NP_000194.2:n.1525-9T=
NM_001363576.1:c.1129-9T= NP_001350505.1:n.1129-9T=
XM_011513461.2:c.1318-9T= XP_011511763.1:n.1318-9T=
XM_017008163.1:c.565-9T= XP_016863652.1:n.565-9T=