Canonical Allele Identifier: CA1433070011
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002716C= , CM000666.2:g.1002716C= GRCh38
NC_000004.11:g.996504C= , CM000666.1:g.996504C= GRCh37
NC_000004.10:g.986504C= NCBI36
NG_008103.1:g.20720C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1190-16C= ENSP00000247933.4:n.1190-16C=
ENST00000514224.2:c.1190-16C= MANE Select ENSP00000425081.2:n.1190-16C=
ENST00000652070.1:n.1246-16C=
ENST00000247933.8:c.1190-16C= ENSP00000247933.4:n.1190-16C=
ENST00000514224.1:c.794-16C= ENSP00000425081.1:n.794-16C=
ENST00000514698.5:n.1297-16C=
NM_000203.4:c.1190-16C= NP_000194.2:n.1190-16C=
NR_110313.1:n.1278-16C=
XM_006713882.2:c.794-16C= XP_006713945.1:n.794-16C=
XM_011513459.1:c.1256-16C= XP_011511761.1:n.1256-16C=
XM_011513460.1:c.1049-16C= XP_011511762.1:n.1049-16C=
XM_011513461.1:c.983-16C= XP_011511763.1:n.983-16C=
XM_011513462.1:c.902-16C= XP_011511764.1:n.902-16C=
XM_011513463.1:c.902-16C= XP_011511765.1:n.902-16C=
XR_924947.1:n.1259-16C=
NM_000203.5:c.1190-16C= MANE Select NP_000194.2:n.1190-16C=
NM_001363576.1:c.794-16C= NP_001350505.1:n.794-16C=
XM_011513461.2:c.983-16C= XP_011511763.1:n.983-16C=
XM_017008163.1:c.230-16C= XP_016863652.1:n.230-16C=