Canonical Allele Identifier: CA1433069919
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002682G= , CM000666.2:g.1002682G= GRCh38
NC_000004.11:g.996470G= , CM000666.1:g.996470G= GRCh37
NC_000004.10:g.986470G= NCBI36
NG_008103.1:g.20686G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1190-50G= ENSP00000247933.4:n.1190-50G=
ENST00000514224.2:c.1190-50G= MANE Select ENSP00000425081.2:n.1190-50G=
ENST00000652070.1:n.1246-50G=
ENST00000247933.8:c.1190-50G= ENSP00000247933.4:n.1190-50G=
ENST00000514224.1:c.794-50G= ENSP00000425081.1:n.794-50G=
ENST00000514698.5:n.1297-50G=
NM_000203.4:c.1190-50G= NP_000194.2:n.1190-50G=
NR_110313.1:n.1278-50G=
XM_006713882.2:c.794-50G= XP_006713945.1:n.794-50G=
XM_011513459.1:c.1256-50G= XP_011511761.1:n.1256-50G=
XM_011513460.1:c.1049-50G= XP_011511762.1:n.1049-50G=
XM_011513461.1:c.983-50G= XP_011511763.1:n.983-50G=
XM_011513462.1:c.902-50G= XP_011511764.1:n.902-50G=
XM_011513463.1:c.902-50G= XP_011511765.1:n.902-50G=
XR_924947.1:n.1259-50G=
NM_000203.5:c.1190-50G= MANE Select NP_000194.2:n.1190-50G=
NM_001363576.1:c.794-50G= NP_001350505.1:n.794-50G=
XM_011513461.2:c.983-50G= XP_011511763.1:n.983-50G=
XM_017008163.1:c.230-50G= XP_016863652.1:n.230-50G=