Canonical Allele Identifier: CA1433071620
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003271G= , CM000666.2:g.1003271G= GRCh38
NC_000004.11:g.997059G= , CM000666.1:g.997059G= GRCh37
NC_000004.10:g.987059G= NCBI36
NG_008103.1:g.21275G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1525-74G= ENSP00000247933.4:n.1525-74G=
ENST00000514224.2:c.1525-74G= MANE Select ENSP00000425081.2:n.1525-74G=
ENST00000652070.1:n.1581-74G=
ENST00000247933.8:c.1525-74G= ENSP00000247933.4:n.1525-74G=
ENST00000502829.1:n.440G=
ENST00000514224.1:c.1129-74G= ENSP00000425081.1:n.1129-74G=
ENST00000514698.5:n.1632-74G=
NM_000203.4:c.1525-74G= NP_000194.2:n.1525-74G=
NR_110313.1:n.1613-74G=
XM_006713882.2:c.1129-74G= XP_006713945.1:n.1129-74G=
XM_011513459.1:c.1591-74G= XP_011511761.1:n.1591-74G=
XM_011513460.1:c.1384-74G= XP_011511762.1:n.1384-74G=
XM_011513461.1:c.1318-74G= XP_011511763.1:n.1318-74G=
XM_011513462.1:c.1237-74G= XP_011511764.1:n.1237-74G=
XM_011513463.1:c.1237-74G= XP_011511765.1:n.1237-74G=
XR_924947.1:n.1707G=
NM_000203.5:c.1525-74G= MANE Select NP_000194.2:n.1525-74G=
NM_001363576.1:c.1129-74G= NP_001350505.1:n.1129-74G=
XM_011513461.2:c.1318-74G= XP_011511763.1:n.1318-74G=
XM_017008163.1:c.565-74G= XP_016863652.1:n.565-74G=