Canonical Allele Identifier: CA1433072395
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003683G= , CM000666.2:g.1003683G= GRCh38
NC_000004.11:g.997471G= , CM000666.1:g.997471G= GRCh37
NC_000004.10:g.987471G= NCBI36
NG_008103.1:g.21687G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1727+58G= ENSP00000247933.4:n.1727+58G=
ENST00000514224.2:c.1727+58G= MANE Select ENSP00000425081.2:n.1727+58G=
ENST00000652070.1:n.1783+58G=
ENST00000247933.8:c.1727+58G= ENSP00000247933.4:n.1727+58G=
ENST00000514224.1:c.1331+58G= ENSP00000425081.1:n.1331+58G=
ENST00000514417.1:n.177G=
ENST00000514698.5:n.1838+54G=
NM_000203.4:c.1727+58G= NP_000194.2:n.1727+58G=
NR_110313.1:n.1819+54G=
XM_006713882.2:c.1331+58G= XP_006713945.1:n.1331+58G=
XM_011513459.1:c.1793+58G= XP_011511761.1:n.1793+58G=
XM_011513460.1:c.1586+58G= XP_011511762.1:n.1586+58G=
XM_011513461.1:c.1520+58G= XP_011511763.1:n.1520+58G=
XM_011513462.1:c.1439+58G= XP_011511764.1:n.1439+58G=
XM_011513463.1:c.1439+58G= XP_011511765.1:n.1439+58G=
XR_924947.1:n.1987+54G=
NM_000203.5:c.1727+58G= MANE Select NP_000194.2:n.1727+58G=
NM_001363576.1:c.1331+58G= NP_001350505.1:n.1331+58G=
XM_011513461.2:c.1520+58G= XP_011511763.1:n.1520+58G=
XM_017008163.1:c.767+58G= XP_016863652.1:n.767+58G=