Canonical Allele Identifier: CA145874
Community Standard Title: NM_000203.5(IDUA):c.1467C>T (p.Arg489=)
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003100C>T , CM000666.2:g.1003100C>T GRCh38
NC_000004.11:g.996888C>T , CM000666.1:g.996888C>T GRCh37
NC_000004.10:g.986888C>T NCBI36
NG_008103.1:g.21104C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.1467C>T MANE Select NP_000194.2:p.Arg489=
ENST00000514224.2:c.1467C>T MANE Select ENSP00000425081.2:p.Arg489=
NM_000203.4:c.1467C>T NP_000194.2:p.Arg489=
NM_001363576.1:c.1071C>T NP_001350505.1:p.Arg357=
NR_110313.1:n.1555C>T
ENST00000247933.8:c.1467C>T ENSP00000247933.4:p.Arg489=
ENST00000247933.9:c.1467C>T ENSP00000247933.4:p.Arg489=
ENST00000502829.1:n.269C>T
ENST00000514224.1:c.1071C>T ENSP00000425081.1:p.Arg357=
ENST00000514698.5:n.1574C>T
ENST00000652070.1:n.1523C>T
XM_006713882.2:c.1071C>T XP_006713945.1:p.Arg357=
XM_011513459.1:c.1533C>T XP_011511761.1:p.Arg511=
XM_011513460.1:c.1326C>T XP_011511762.1:p.Arg442=
XM_011513461.1:c.1260C>T XP_011511763.1:p.Arg420=
XM_011513461.2:c.1260C>T XP_011511763.1:p.Arg420=
XM_011513462.1:c.1179C>T XP_011511764.1:p.Arg393=
XM_011513463.1:c.1179C>T XP_011511765.1:p.Arg393=
XM_017008163.1:c.507C>T XP_016863652.1:p.Arg169=
XR_924947.1:n.1536C>T