Canonical Allele Identifier: CA1433069063
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002303A= , CM000666.2:g.1002303A= GRCh38
NC_000004.11:g.996091A= , CM000666.1:g.996091A= GRCh37
NC_000004.10:g.986091A= NCBI36
NG_008103.1:g.20307A=

Transcript Alleles

HGVS Amino-acid change
ENST00000247933.9:c.1007A= ENSP00000247933.4:p.Asn336=
ENST00000514224.2:c.1007A= MANE Select ENSP00000425081.2:p.Asn336=
ENST00000652070.1:n.1063A=
ENST00000247933.8:c.1007A= ENSP00000247933.4:p.Asn336=
ENST00000514224.1:c.611A= ENSP00000425081.1:p.Asn204=
ENST00000514698.5:n.1114A=
NM_000203.4:c.1007A= NP_000194.2:p.Asn336=
NR_110313.1:n.1095A=
XM_006713882.2:c.611A= XP_006713945.1:p.Asn204=
XM_011513459.1:c.1073A= XP_011511761.1:p.Asn358=
XM_011513460.1:c.866A= XP_011511762.1:p.Asn289=
XM_011513461.1:c.800A= XP_011511763.1:p.Asn267=
XM_011513462.1:c.719A= XP_011511764.1:p.Asn240=
XM_011513463.1:c.719A= XP_011511765.1:p.Asn240=
XR_924947.1:n.1076A=
NM_000203.5:c.1007A= MANE Select NP_000194.2:p.Asn336=
NM_001363576.1:c.611A= NP_001350505.1:p.Asn204=
XM_011513461.2:c.800A= XP_011511763.1:p.Asn267=
XM_017008163.1:c.47A= XP_016863652.1:p.Asn16=