{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA345466",
  "communityStandardTitle": [
    "NM_001288705.3(CSF1R):c.2342C>A (p.Ala781Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=125919[alleleid]",
        "alleleId": 125919,
        "preferredName": "NM_001288705.3(CSF1R):c.2342C>A (p.Ala781Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/120324",
        "RCV": [
          "RCV000106405"
        ],
        "variationId": 120324
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149435882G>T?assembly=hg19",
        "id": "chr5:g.149435882G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.150056319G>T?assembly=hg38",
        "id": "chr5:g.150056319G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777247",
        "rs": 587777247
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 150056319,
          "referenceAllele": "G",
          "start": 150056318
        }
      ],
      "hgvs": [
        "NC_000005.10:g.150056319G>T",
        "CM000667.2:g.150056319G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 149435882,
          "referenceAllele": "G",
          "start": 149435881
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149435882G>T",
        "CM000667.1:g.149435882G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 149416075,
          "referenceAllele": "G",
          "start": 149416074
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149416075G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 62054,
          "referenceAllele": "C",
          "start": 62053
        }
      ],
      "hgvs": [
        "NG_012303.1:g.62054C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 62054,
          "referenceAllele": "C",
          "start": 62053
        }
      ],
      "hgvs": [
        "NG_012303.2:g.62054C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673594"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2469,
          "referenceAllele": "C",
          "start": 2468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000675795.1:c.2342C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501699.1:p.Ala781Glu",
        "hgvsWellDefined": "ENSP00000501699.1:p.Ala781Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775566",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675795.1:c.2342C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001288705.3:c.2342C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501699.1:p.Ala781Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001275634.1:p.Ala781Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2634,
          "referenceAllele": "C",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000286301.7:c.2342C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286301.3:p.Ala781Glu",
        "hgvsWellDefined": "ENSP00000286301.3:p.Ala781Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2342,
          "referenceAllele": "C",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000504875.5:c.*163C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422212.1:n.*163C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000515068.1:c.511C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427545.1:n.511C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826712941",
      "coordinates": [
        {
          "allele": "A",
          "end": 2555,
          "referenceAllele": "C",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.1:c.2342C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:p.Ala781Glu",
        "hgvsWellDefined": "NP_001275634.1:p.Ala781Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA345467",
      "coordinates": [
        {
          "allele": "A",
          "end": 2634,
          "referenceAllele": "C",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_005211.3:c.2342C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005202.2:p.Ala781Glu",
        "hgvsWellDefined": "NP_005202.2:p.Ala781Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2392,
          "referenceAllele": "C",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_109969.1:n.2392C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054258"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826712941",
      "coordinates": [
        {
          "allele": "A",
          "end": 2618,
          "referenceAllele": "C",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.2:c.2342C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:p.Ala781Glu",
        "hgvsWellDefined": "NP_001275634.1:p.Ala781Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827511039",
      "coordinates": [
        {
          "allele": "A",
          "end": 2715,
          "referenceAllele": "C",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001349736.1:c.2342C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336665.1:p.Ala781Glu",
        "hgvsWellDefined": "NP_001336665.1:p.Ala781Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826712941",
      "coordinates": [
        {
          "allele": "A",
          "end": 2469,
          "referenceAllele": "C",
          "start": 2468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.3:c.2342C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:p.Ala781Glu",
        "hgvsWellDefined": "NP_001275634.1:p.Ala781Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682488",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675795.1:c.2342C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001288705.3:c.2342C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501699.1:p.Ala781Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001275634.1:p.Ala781Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828578936",
      "coordinates": [
        {
          "allele": "A",
          "end": 2732,
          "referenceAllele": "C",
          "start": 2731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001375320.1:c.2342C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362249.1:p.Ala781Glu",
        "hgvsWellDefined": "NP_001362249.1:p.Ala781Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828579380",
      "coordinates": [
        {
          "allele": "A",
          "end": 2398,
          "referenceAllele": "C",
          "start": 2397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001375321.1:c.1898C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362250.1:p.Ala633Glu",
        "hgvsWellDefined": "NP_001362250.1:p.Ala633Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2235,
          "referenceAllele": "C",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_164679.1:n.2235C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827511039",
      "coordinates": [
        {
          "allele": "A",
          "end": 2713,
          "referenceAllele": "C",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001349736.2:c.2342C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336665.1:p.Ala781Glu",
        "hgvsWellDefined": "NP_001336665.1:p.Ala781Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719418"
    },
    {
      "@id": "http://reg.genome.network/allele/PA345467",
      "coordinates": [
        {
          "allele": "A",
          "end": 2627,
          "referenceAllele": "C",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_005211.4:c.2342C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005202.2:p.Ala781Glu",
        "hgvsWellDefined": "NP_005202.2:p.Ala781Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727600"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2306,
          "referenceAllele": "C",
          "start": 2305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_109969.2:n.2306C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730686"
    }
  ],
  "type": "nucleotide"
}