Canonical Allele Identifier: CA355964729
Community Standard Title: NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg)
Gene: IDUA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003132A>G , CM000666.2:g.1003132A>G GRCh38
NC_000004.11:g.996920A>G , CM000666.1:g.996920A>G GRCh37
NC_000004.10:g.986920A>G NCBI36
NG_008103.1:g.21136A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.1499A>G MANE Select NP_000194.2:p.Gln500Arg
ENST00000514224.2:c.1499A>G MANE Select ENSP00000425081.2:p.Gln500Arg
NM_000203.4:c.1499A>G NP_000194.2:p.Gln500Arg
NM_001363576.1:c.1103A>G NP_001350505.1:p.Gln368Arg
NR_110313.1:n.1587A>G
ENST00000247933.8:c.1499A>G ENSP00000247933.4:p.Gln500Arg
ENST00000247933.9:c.1499A>G ENSP00000247933.4:p.Gln500Arg
ENST00000502829.1:n.301A>G
ENST00000514224.1:c.1103A>G ENSP00000425081.1:p.Gln368Arg
ENST00000514698.5:n.1606A>G
ENST00000652070.1:n.1555A>G
XM_006713882.2:c.1103A>G XP_006713945.1:p.Gln368Arg
XM_011513459.1:c.1565A>G XP_011511761.1:p.Gln522Arg
XM_011513460.1:c.1358A>G XP_011511762.1:p.Gln453Arg
XM_011513461.1:c.1292A>G XP_011511763.1:p.Gln431Arg
XM_011513461.2:c.1292A>G XP_011511763.1:p.Gln431Arg
XM_011513462.1:c.1211A>G XP_011511764.1:p.Gln404Arg
XM_011513463.1:c.1211A>G XP_011511765.1:p.Gln404Arg
XM_017008163.1:c.539A>G XP_016863652.1:p.Gln180Arg
XR_924947.1:n.1568A>G
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