Canonical Allele Identifier: CA145870
Community Standard Title: NM_000203.5(IDUA):c.1230C>G (p.Thr410=)
Gene: IDUA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002772C>G , CM000666.2:g.1002772C>G GRCh38
NC_000004.11:g.996560C>G , CM000666.1:g.996560C>G GRCh37
NC_000004.10:g.986560C>G NCBI36
NG_008103.1:g.20776C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.1230C>G MANE Select NP_000194.2:p.Thr410=
ENST00000514224.2:c.1230C>G MANE Select ENSP00000425081.2:p.Thr410=
NM_000203.4:c.1230C>G NP_000194.2:p.Thr410=
NM_001363576.1:c.834C>G NP_001350505.1:p.Thr278=
NR_110313.1:n.1318C>G
ENST00000247933.8:c.1230C>G ENSP00000247933.4:p.Thr410=
ENST00000247933.9:c.1230C>G ENSP00000247933.4:p.Thr410=
ENST00000502829.1:n.32C>G
ENST00000514224.1:c.834C>G ENSP00000425081.1:p.Thr278=
ENST00000514698.5:n.1337C>G
ENST00000652070.1:n.1286C>G
XM_006713882.2:c.834C>G XP_006713945.1:p.Thr278=
XM_011513459.1:c.1296C>G XP_011511761.1:p.Thr432=
XM_011513460.1:c.1089C>G XP_011511762.1:p.Thr363=
XM_011513461.1:c.1023C>G XP_011511763.1:p.Thr341=
XM_011513461.2:c.1023C>G XP_011511763.1:p.Thr341=
XM_011513462.1:c.942C>G XP_011511764.1:p.Thr314=
XM_011513463.1:c.942C>G XP_011511765.1:p.Thr314=
XM_017008163.1:c.270C>G XP_016863652.1:p.Thr90=
XR_924947.1:n.1299C>G
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