{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8631759",
  "communityStandardTitle": [
    "NM_002144.4(HOXB1):c.450G>A (p.Ala150=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4130341"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1270596[alleleid]",
        "alleleId": 1270596,
        "preferredName": "NM_002144.4(HOXB1):c.450G>A (p.Ala150=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1281602",
        "RCV": [
          "RCV001693586"
        ],
        "variationId": 1281602
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-46607817-C-T",
        "id": "17-46607817-C-T",
        "variant": "17:46607817 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.46607817C>T?assembly=hg19",
        "id": "chr17:g.46607817C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48530455C>T?assembly=hg38",
        "id": "chr17:g.48530455C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7207109",
        "rs": 7207109
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-46607817-C-T?dataset=gnomad_r2_1",
        "id": "17-46607817-C-T",
        "variant": "17:46607817 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-48530455-C-T?dataset=gnomad_r3",
        "id": "17-48530455-C-T",
        "variant": "17:48530455 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-48530455-C-T?dataset=gnomad_r4",
        "id": "17-48530455-C-T",
        "variant": "17:48530455 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 48530455,
          "referenceAllele": "C",
          "start": 48530454
        }
      ],
      "hgvs": [
        "NC_000017.11:g.48530455C>T",
        "CM000679.2:g.48530455C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 46607817,
          "referenceAllele": "C",
          "start": 46607816
        }
      ],
      "hgvs": [
        "NC_000017.10:g.46607817C>T",
        "CM000679.1:g.46607817C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 43962816,
          "referenceAllele": "C",
          "start": 43962815
        }
      ],
      "hgvs": [
        "NC_000017.9:g.43962816C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5456,
          "referenceAllele": "G",
          "start": 5455
        }
      ],
      "hgvs": [
        "NG_032884.1:g.5456G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005252"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005111",
      "geneNCBI_id": 3211,
      "geneSymbol": "HOXB1",
      "hgvs": [
        "ENST00000239174.7:c.450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355140.5:p.Ala150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000239174.7:c.450G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002144.4:c.450G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355140.5:p.Ala150="
          },
          "RefSeq": {
            "hgvs": "NP_002135.2:p.Ala150="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005111",
      "geneNCBI_id": 3211,
      "geneSymbol": "HOXB1",
      "hgvs": [
        "ENST00000239174.6:c.450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355140.5:p.Ala150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005111",
      "geneNCBI_id": 3211,
      "geneSymbol": "HOXB1",
      "hgvs": [
        "ENST00000577092.1:c.450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459066.1:p.Ala150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384715"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829359602",
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005111",
      "geneNCBI_id": 3211,
      "geneSymbol": "HOXB1",
      "hgvs": [
        "NM_002144.3:c.450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002135.2:p.Ala150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829359602",
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005111",
      "geneNCBI_id": 3211,
      "geneSymbol": "HOXB1",
      "hgvs": [
        "NM_002144.4:c.450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002135.2:p.Ala150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665371",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000239174.7:c.450G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002144.4:c.450G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355140.5:p.Ala150="
          },
          "RefSeq": {
            "hgvs": "NP_002135.2:p.Ala150="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}