Canonical Allele Identifier: CA1433068256
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1001908G= , CM000666.2:g.1001908G= GRCh38
NC_000004.11:g.995696G= , CM000666.1:g.995696G= GRCh37
NC_000004.10:g.985696G= NCBI36
NG_008103.1:g.19912G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.792+27G= ENSP00000247933.4:n.792+27G=
ENST00000514224.2:c.792+27G= MANE Select ENSP00000425081.2:n.792+27G=
ENST00000652070.1:n.848+27G=
ENST00000247933.8:c.792+27G= ENSP00000247933.4:n.792+27G=
ENST00000502910.5:c.651+27G= ENSP00000422952.1:n.651+27G=
ENST00000514192.5:c.609+27G= ENSP00000423685.1:n.609+27G=
ENST00000514224.1:c.396+27G= ENSP00000425081.1:n.396+27G=
ENST00000514698.5:n.719G=
NM_000203.4:c.792+27G= NP_000194.2:n.792+27G=
NR_110313.1:n.880+27G=
XM_006713882.2:c.396+27G= XP_006713945.1:n.396+27G=
XM_011513459.1:c.678G= XP_011511761.1:p.Pro226=
XM_011513460.1:c.651+27G= XP_011511762.1:n.651+27G=
XM_011513461.1:c.585+27G= XP_011511763.1:n.585+27G=
XM_011513462.1:c.504+27G= XP_011511764.1:n.504+27G=
XM_011513463.1:c.504+27G= XP_011511765.1:n.504+27G=
XR_924947.1:n.861+27G=
NM_000203.5:c.792+27G= MANE Select NP_000194.2:n.792+27G=
NM_001363576.1:c.396+27G= NP_001350505.1:n.396+27G=
XM_011513461.2:c.585+27G= XP_011511763.1:n.585+27G=
XM_017008163.1:c.-169+27G= XP_016863652.1:n.-169+27G=