Canonical Allele Identifier: CA1433071974
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003504C= , CM000666.2:g.1003504C= GRCh38
NC_000004.11:g.997292C= , CM000666.1:g.997292C= GRCh37
NC_000004.10:g.987292C= NCBI36
NG_008103.1:g.21508C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1650+34C= ENSP00000247933.4:n.1650+34C=
ENST00000514224.2:c.1650+34C= MANE Select ENSP00000425081.2:n.1650+34C=
ENST00000652070.1:n.1706+34C=
ENST00000247933.8:c.1650+34C= ENSP00000247933.4:n.1650+34C=
ENST00000514224.1:c.1254+34C= ENSP00000425081.1:n.1254+34C=
ENST00000514417.1:n.42+34C=
ENST00000514698.5:n.1757+34C=
NM_000203.4:c.1650+34C= NP_000194.2:n.1650+34C=
NR_110313.1:n.1738+34C=
XM_006713882.2:c.1254+34C= XP_006713945.1:n.1254+34C=
XM_011513459.1:c.1716+34C= XP_011511761.1:n.1716+34C=
XM_011513460.1:c.1509+34C= XP_011511762.1:n.1509+34C=
XM_011513461.1:c.1443+34C= XP_011511763.1:n.1443+34C=
XM_011513462.1:c.1362+34C= XP_011511764.1:n.1362+34C=
XM_011513463.1:c.1362+34C= XP_011511765.1:n.1362+34C=
XR_924947.1:n.1906+34C=
NM_000203.5:c.1650+34C= MANE Select NP_000194.2:n.1650+34C=
NM_001363576.1:c.1254+34C= NP_001350505.1:n.1254+34C=
XM_011513461.2:c.1443+34C= XP_011511763.1:n.1443+34C=
XM_017008163.1:c.690+34C= XP_016863652.1:n.690+34C=