Canonical Allele Identifier: CA1433067194
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1001357G= , CM000666.2:g.1001357G= GRCh38
NC_000004.11:g.995145G= , CM000666.1:g.995145G= GRCh37
NC_000004.10:g.985145G= NCBI36
NG_008103.1:g.19361G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.494-111G= ENSP00000247933.4:n.494-111G=
ENST00000514224.2:c.494-111G= MANE Select ENSP00000425081.2:n.494-111G=
ENST00000652070.1:n.550-111G=
ENST00000247933.8:c.494-111G= ENSP00000247933.4:n.494-111G=
ENST00000502910.5:c.353-111G= ENSP00000422952.1:n.353-111G=
ENST00000504568.5:c.454-111G=
ENST00000509948.5:c.287-111G= ENSP00000424227.1:n.287-111G=
ENST00000514192.5:c.311-111G= ENSP00000423685.1:n.311-111G=
ENST00000514224.1:c.98-111G= ENSP00000425081.1:n.98-111G=
ENST00000514698.5:n.394-111G=
NM_000203.4:c.494-111G= NP_000194.2:n.494-111G=
NR_110313.1:n.582-111G=
XM_006713882.2:c.98-111G= XP_006713945.1:n.98-111G=
XM_011513459.1:c.353-111G= XP_011511761.1:n.353-111G=
XM_011513460.1:c.353-111G= XP_011511762.1:n.353-111G=
XM_011513461.1:c.287-111G= XP_011511763.1:n.287-111G=
XM_011513462.1:c.206-111G= XP_011511764.1:n.206-111G=
XM_011513463.1:c.206-111G= XP_011511765.1:n.206-111G=
XR_924947.1:n.563-111G=
NM_000203.5:c.494-111G= MANE Select NP_000194.2:n.494-111G=
NM_001363576.1:c.98-111G= NP_001350505.1:n.98-111G=
XM_011513461.2:c.287-111G= XP_011511763.1:n.287-111G=
XM_017008163.1:c.-606G= XP_016863652.1:n.-606G=