Canonical Allele Identifier: CA1433071528
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003207G= , CM000666.2:g.1003207G= GRCh38
NC_000004.11:g.996995G= , CM000666.1:g.996995G= GRCh37
NC_000004.10:g.986995G= NCBI36
NG_008103.1:g.21211G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1524+50G= ENSP00000247933.4:n.1524+50G=
ENST00000514224.2:c.1524+50G= MANE Select ENSP00000425081.2:n.1524+50G=
ENST00000652070.1:n.1580+50G=
ENST00000247933.8:c.1524+50G= ENSP00000247933.4:n.1524+50G=
ENST00000502829.1:n.376G=
ENST00000514224.1:c.1128+50G= ENSP00000425081.1:n.1128+50G=
ENST00000514698.5:n.1631+50G=
NM_000203.4:c.1524+50G= NP_000194.2:n.1524+50G=
NR_110313.1:n.1612+50G=
XM_006713882.2:c.1128+50G= XP_006713945.1:n.1128+50G=
XM_011513459.1:c.1590+50G= XP_011511761.1:n.1590+50G=
XM_011513460.1:c.1383+50G= XP_011511762.1:n.1383+50G=
XM_011513461.1:c.1317+50G= XP_011511763.1:n.1317+50G=
XM_011513462.1:c.1236+50G= XP_011511764.1:n.1236+50G=
XM_011513463.1:c.1236+50G= XP_011511765.1:n.1236+50G=
XR_924947.1:n.1643G=
NM_000203.5:c.1524+50G= MANE Select NP_000194.2:n.1524+50G=
NM_001363576.1:c.1128+50G= NP_001350505.1:n.1128+50G=
XM_011513461.2:c.1317+50G= XP_011511763.1:n.1317+50G=
XM_017008163.1:c.564+50G= XP_016863652.1:n.564+50G=