Canonical Allele Identifier: CA1433068887
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002216A= , CM000666.2:g.1002216A= GRCh38
NC_000004.11:g.996004A= , CM000666.1:g.996004A= GRCh37
NC_000004.10:g.986004A= NCBI36
NG_008103.1:g.20220A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.973-53A= ENSP00000247933.4:n.973-53A=
ENST00000514224.2:c.973-53A= MANE Select ENSP00000425081.2:n.973-53A=
ENST00000652070.1:n.1029-53A=
ENST00000247933.8:c.973-53A= ENSP00000247933.4:n.973-53A=
ENST00000514224.1:c.577-53A= ENSP00000425081.1:n.577-53A=
ENST00000514698.5:n.1027A=
NM_000203.4:c.973-53A= NP_000194.2:n.973-53A=
NR_110313.1:n.1061-53A=
XM_006713882.2:c.577-53A= XP_006713945.1:n.577-53A=
XM_011513459.1:c.986A= XP_011511761.1:p.Asp329=
XM_011513460.1:c.832-53A= XP_011511762.1:n.832-53A=
XM_011513461.1:c.766-53A= XP_011511763.1:n.766-53A=
XM_011513462.1:c.685-53A= XP_011511764.1:n.685-53A=
XM_011513463.1:c.685-53A= XP_011511765.1:n.685-53A=
XR_924947.1:n.1042-53A=
NM_000203.5:c.973-53A= MANE Select NP_000194.2:n.973-53A=
NM_001363576.1:c.577-53A= NP_001350505.1:n.577-53A=
XM_011513461.2:c.766-53A= XP_011511763.1:n.766-53A=
XM_017008163.1:c.13-53A= XP_016863652.1:n.13-53A=