Canonical Allele Identifier: CA1433067257
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1001454A= , CM000666.2:g.1001454A= GRCh38
NC_000004.11:g.995242A= , CM000666.1:g.995242A= GRCh37
NC_000004.10:g.985242A= NCBI36
NG_008103.1:g.19458A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.494-14A= ENSP00000247933.4:n.494-14A=
ENST00000514224.2:c.494-14A= MANE Select ENSP00000425081.2:n.494-14A=
ENST00000652070.1:n.550-14A=
ENST00000247933.8:c.494-14A= ENSP00000247933.4:n.494-14A=
ENST00000502910.5:c.353-14A= ENSP00000422952.1:n.353-14A=
ENST00000504568.5:c.454-14A=
ENST00000509948.5:c.287-14A= ENSP00000424227.1:n.287-14A=
ENST00000514192.5:c.311-14A= ENSP00000423685.1:n.311-14A=
ENST00000514224.1:c.98-14A= ENSP00000425081.1:n.98-14A=
ENST00000514698.5:n.394-14A=
NM_000203.4:c.494-14A= NP_000194.2:n.494-14A=
NR_110313.1:n.582-14A=
XM_006713882.2:c.98-14A= XP_006713945.1:n.98-14A=
XM_011513459.1:c.353-14A= XP_011511761.1:n.353-14A=
XM_011513460.1:c.353-14A= XP_011511762.1:n.353-14A=
XM_011513461.1:c.287-14A= XP_011511763.1:n.287-14A=
XM_011513462.1:c.206-14A= XP_011511764.1:n.206-14A=
XM_011513463.1:c.206-14A= XP_011511765.1:n.206-14A=
XR_924947.1:n.563-14A=
NM_000203.5:c.494-14A= MANE Select NP_000194.2:n.494-14A=
NM_001363576.1:c.98-14A= NP_001350505.1:n.98-14A=
XM_011513461.2:c.287-14A= XP_011511763.1:n.287-14A=
XM_017008163.1:c.-509A= XP_016863652.1:n.-509A=