{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA363886120",
  "communityStandardTitle": [
    "NM_001014.5(RPS10):c.401-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=851324[alleleid]",
        "alleleId": 851324,
        "preferredName": "NM_001014.5(RPS10):c.401-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/834960",
        "RCV": [
          "RCV001035752"
        ],
        "variationId": 834960
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.34386203T>C?assembly=hg19",
        "id": "chr6:g.34386203T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.34418426T>C?assembly=hg38",
        "id": "chr6:g.34418426T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1765648528",
        "rs": 1765648528
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 34418426,
          "referenceAllele": "T",
          "start": 34418425
        }
      ],
      "hgvs": [
        "NC_000006.12:g.34418426T>C",
        "CM000668.2:g.34418426T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 34386203,
          "referenceAllele": "T",
          "start": 34386202
        }
      ],
      "hgvs": [
        "NC_000006.11:g.34386203T>C",
        "CM000668.1:g.34386203T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 34494181,
          "referenceAllele": "T",
          "start": 34494180
        }
      ],
      "hgvs": [
        "NC_000006.10:g.34494181T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12674,
          "referenceAllele": "A",
          "start": 12673
        }
      ],
      "hgvs": [
        "NG_023200.1:g.12674A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003710"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 421,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "ENST00000344700.8:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363169.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 327,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049181",
      "geneNCBI_id": 100529239,
      "geneSymbol": "RPS10-NUDT3",
      "hgvs": [
        "ENST00000605528.2:c.328-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761636"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 631,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "ENST00000621356.3:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481646.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 440,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049181",
      "geneNCBI_id": 100529239,
      "geneSymbol": "RPS10-NUDT3",
      "hgvs": [
        "ENST00000639725.1:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492441.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 651,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049181",
      "geneNCBI_id": 100529239,
      "geneSymbol": "RPS10-NUDT3",
      "hgvs": [
        "ENST00000639877.1:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491891.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 438,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "ENST00000644393.1:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496022.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767796"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 436,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "ENST00000644700.1:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495142.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 438,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "ENST00000648437.1:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497917.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648437.1:c.401-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001014.5:c.401-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497917.1:n.401-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001005.1:n.401-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 494,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 494,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "ENST00000326199.12:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347271.6:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258585"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 400,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 400,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "ENST00000344700.7:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363169.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 465,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 465,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "ENST00000464218.5:n.466-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 627,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "ENST00000467531.5:n.628-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 631,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "ENST00000494077.5:n.632-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 417,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 417,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049181",
      "geneNCBI_id": 100529239,
      "geneSymbol": "RPS10-NUDT3",
      "hgvs": [
        "ENST00000605528.1:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475027.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 646,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "ENST00000621356.2:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481646.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 494,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 494,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "NM_001014.4:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 494,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 494,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049181",
      "geneNCBI_id": 100529239,
      "geneSymbol": "RPS10-NUDT3",
      "hgvs": [
        "NM_001202470.2:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189399.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017416"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 646,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "NM_001203245.2:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001190174.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017461"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 498,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 498,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "NM_001204091.1:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191020.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017506"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 438,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "NM_001014.5:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648437.1:c.401-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001014.5:c.401-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497917.1:n.401-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001005.1:n.401-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 674,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 674,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "NM_001203245.3:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001190174.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 442,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010383",
      "geneNCBI_id": 6204,
      "geneSymbol": "RPS10",
      "hgvs": [
        "NM_001204091.2:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191020.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 438,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049181",
      "geneNCBI_id": 100529239,
      "geneSymbol": "RPS10-NUDT3",
      "hgvs": [
        "NM_001202470.3:c.401-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189399.1:n.401-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714093"
    }
  ],
  "type": "nucleotide"
}