Canonical Allele Identifier: CA1433068905
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002224G= , CM000666.2:g.1002224G= GRCh38
NC_000004.11:g.996012G= , CM000666.1:g.996012G= GRCh37
NC_000004.10:g.986012G= NCBI36
NG_008103.1:g.20228G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.973-45G= ENSP00000247933.4:n.973-45G=
ENST00000514224.2:c.973-45G= MANE Select ENSP00000425081.2:n.973-45G=
ENST00000652070.1:n.1029-45G=
ENST00000247933.8:c.973-45G= ENSP00000247933.4:n.973-45G=
ENST00000514224.1:c.577-45G= ENSP00000425081.1:n.577-45G=
ENST00000514698.5:n.1035G=
NM_000203.4:c.973-45G= NP_000194.2:n.973-45G=
NR_110313.1:n.1061-45G=
XM_006713882.2:c.577-45G= XP_006713945.1:n.577-45G=
XM_011513459.1:c.994G= XP_011511761.1:p.Ala332=
XM_011513460.1:c.832-45G= XP_011511762.1:n.832-45G=
XM_011513461.1:c.766-45G= XP_011511763.1:n.766-45G=
XM_011513462.1:c.685-45G= XP_011511764.1:n.685-45G=
XM_011513463.1:c.685-45G= XP_011511765.1:n.685-45G=
XR_924947.1:n.1042-45G=
NM_000203.5:c.973-45G= MANE Select NP_000194.2:n.973-45G=
NM_001363576.1:c.577-45G= NP_001350505.1:n.577-45G=
XM_011513461.2:c.766-45G= XP_011511763.1:n.766-45G=
XM_017008163.1:c.13-45G= XP_016863652.1:n.13-45G=