Canonical Allele Identifier: CA1433068344
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1001958G= , CM000666.2:g.1001958G= GRCh38
NC_000004.11:g.995746G= , CM000666.1:g.995746G= GRCh37
NC_000004.10:g.985746G= NCBI36
NG_008103.1:g.19962G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.793-24G= ENSP00000247933.4:n.793-24G=
ENST00000514224.2:c.793-24G= MANE Select ENSP00000425081.2:n.793-24G=
ENST00000652070.1:n.849-24G=
ENST00000247933.8:c.793-24G= ENSP00000247933.4:n.793-24G=
ENST00000502910.5:c.652-24G= ENSP00000422952.1:n.652-24G=
ENST00000514192.5:c.610-24G= ENSP00000423685.1:n.610-24G=
ENST00000514224.1:c.397-24G= ENSP00000425081.1:n.397-24G=
ENST00000514698.5:n.769G=
NM_000203.4:c.793-24G= NP_000194.2:n.793-24G=
NR_110313.1:n.881-24G=
XM_006713882.2:c.397-24G= XP_006713945.1:n.397-24G=
XM_011513459.1:c.728G= XP_011511761.1:p.Gly243=
XM_011513460.1:c.652-24G= XP_011511762.1:n.652-24G=
XM_011513461.1:c.586-24G= XP_011511763.1:n.586-24G=
XM_011513462.1:c.505-24G= XP_011511764.1:n.505-24G=
XM_011513463.1:c.505-24G= XP_011511765.1:n.505-24G=
XR_924947.1:n.862-24G=
NM_000203.5:c.793-24G= MANE Select NP_000194.2:n.793-24G=
NM_001363576.1:c.397-24G= NP_001350505.1:n.397-24G=
XM_011513461.2:c.586-24G= XP_011511763.1:n.586-24G=
XM_017008163.1:c.-168-24G= XP_016863652.1:n.-168-24G=