Canonical Allele Identifier: CA1433068318
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1001940G= , CM000666.2:g.1001940G= GRCh38
NC_000004.11:g.995728G= , CM000666.1:g.995728G= GRCh37
NC_000004.10:g.985728G= NCBI36
NG_008103.1:g.19944G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.793-42G= ENSP00000247933.4:n.793-42G=
ENST00000514224.2:c.793-42G= MANE Select ENSP00000425081.2:n.793-42G=
ENST00000652070.1:n.849-42G=
ENST00000247933.8:c.793-42G= ENSP00000247933.4:n.793-42G=
ENST00000502910.5:c.652-42G= ENSP00000422952.1:n.652-42G=
ENST00000514192.5:c.610-42G= ENSP00000423685.1:n.610-42G=
ENST00000514224.1:c.397-42G= ENSP00000425081.1:n.397-42G=
ENST00000514698.5:n.751G=
NM_000203.4:c.793-42G= NP_000194.2:n.793-42G=
NR_110313.1:n.881-42G=
XM_006713882.2:c.397-42G= XP_006713945.1:n.397-42G=
XM_011513459.1:c.710G= XP_011511761.1:p.Gly237=
XM_011513460.1:c.652-42G= XP_011511762.1:n.652-42G=
XM_011513461.1:c.586-42G= XP_011511763.1:n.586-42G=
XM_011513462.1:c.505-42G= XP_011511764.1:n.505-42G=
XM_011513463.1:c.505-42G= XP_011511765.1:n.505-42G=
XR_924947.1:n.862-42G=
NM_000203.5:c.793-42G= MANE Select NP_000194.2:n.793-42G=
NM_001363576.1:c.397-42G= NP_001350505.1:n.397-42G=
XM_011513461.2:c.586-42G= XP_011511763.1:n.586-42G=
XM_017008163.1:c.-168-42G= XP_016863652.1:n.-168-42G=