Canonical Allele Identifier: CA1433067599
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1001643C= , CM000666.2:g.1001643C= GRCh38
NC_000004.11:g.995431C= , CM000666.1:g.995431C= GRCh37
NC_000004.10:g.985431C= NCBI36
NG_008103.1:g.19647C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.590-36C= ENSP00000247933.4:n.590-36C=
ENST00000514224.2:c.590-36C= MANE Select ENSP00000425081.2:n.590-36C=
ENST00000652070.1:n.646-36C=
ENST00000247933.8:c.590-36C= ENSP00000247933.4:n.590-36C=
ENST00000502910.5:c.449-36C= ENSP00000422952.1:n.449-36C=
ENST00000504568.5:c.550-36C=
ENST00000509948.5:c.383-36C= ENSP00000424227.1:n.383-36C=
ENST00000514192.5:c.407-36C= ENSP00000423685.1:n.407-36C=
ENST00000514224.1:c.194-36C= ENSP00000425081.1:n.194-36C=
ENST00000514698.5:n.490-36C=
NM_000203.4:c.590-36C= NP_000194.2:n.590-36C=
NR_110313.1:n.678-36C=
XM_006713882.2:c.194-36C= XP_006713945.1:n.194-36C=
XM_011513459.1:c.449-36C= XP_011511761.1:n.449-36C=
XM_011513460.1:c.449-36C= XP_011511762.1:n.449-36C=
XM_011513461.1:c.383-36C= XP_011511763.1:n.383-36C=
XM_011513462.1:c.302-36C= XP_011511764.1:n.302-36C=
XM_011513463.1:c.302-36C= XP_011511765.1:n.302-36C=
XR_924947.1:n.659-36C=
NM_000203.5:c.590-36C= MANE Select NP_000194.2:n.590-36C=
NM_001363576.1:c.194-36C= NP_001350505.1:n.194-36C=
XM_011513461.2:c.383-36C= XP_011511763.1:n.383-36C=
XM_017008163.1:c.-399-8C= XP_016863652.1:n.-399-8C=