Canonical Allele Identifier: CA1433067573
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1001622A= , CM000666.2:g.1001622A= GRCh38
NC_000004.11:g.995410A= , CM000666.1:g.995410A= GRCh37
NC_000004.10:g.985410A= NCBI36
NG_008103.1:g.19626A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.590-57A= ENSP00000247933.4:n.590-57A=
ENST00000514224.2:c.590-57A= MANE Select ENSP00000425081.2:n.590-57A=
ENST00000652070.1:n.646-57A=
ENST00000247933.8:c.590-57A= ENSP00000247933.4:n.590-57A=
ENST00000502910.5:c.449-57A= ENSP00000422952.1:n.449-57A=
ENST00000504568.5:c.550-57A=
ENST00000509948.5:c.383-57A= ENSP00000424227.1:n.383-57A=
ENST00000514192.5:c.407-57A= ENSP00000423685.1:n.407-57A=
ENST00000514224.1:c.194-57A= ENSP00000425081.1:n.194-57A=
ENST00000514698.5:n.490-57A=
NM_000203.4:c.590-57A= NP_000194.2:n.590-57A=
NR_110313.1:n.678-57A=
XM_006713882.2:c.194-57A= XP_006713945.1:n.194-57A=
XM_011513459.1:c.449-57A= XP_011511761.1:n.449-57A=
XM_011513460.1:c.449-57A= XP_011511762.1:n.449-57A=
XM_011513461.1:c.383-57A= XP_011511763.1:n.383-57A=
XM_011513462.1:c.302-57A= XP_011511764.1:n.302-57A=
XM_011513463.1:c.302-57A= XP_011511765.1:n.302-57A=
XR_924947.1:n.659-57A=
NM_000203.5:c.590-57A= MANE Select NP_000194.2:n.590-57A=
NM_001363576.1:c.194-57A= NP_001350505.1:n.194-57A=
XM_011513461.2:c.383-57A= XP_011511763.1:n.383-57A=
XM_017008163.1:c.-399-29A= XP_016863652.1:n.-399-29A=