{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8631797",
  "communityStandardTitle": [
    "NM_002144.4(HOXB1):c.309A>T (p.Gln103His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4985798"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1228888[alleleid]",
        "alleleId": 1228888,
        "preferredName": "NM_002144.4(HOXB1):c.309A>T (p.Gln103His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1239766",
        "RCV": [
          "RCV001637730"
        ],
        "variationId": 1239766
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-46607958-T-A",
        "id": "17-46607958-T-A",
        "variant": "17:46607958 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.46607958T>A?assembly=hg19",
        "id": "chr17:g.46607958T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48530596T>A?assembly=hg38",
        "id": "chr17:g.48530596T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12939811",
        "rs": 12939811
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-46607958-T-A?dataset=gnomad_r2_1",
        "id": "17-46607958-T-A",
        "variant": "17:46607958 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-48530596-T-A?dataset=gnomad_r3",
        "id": "17-48530596-T-A",
        "variant": "17:48530596 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-48530596-T-A?dataset=gnomad_r4",
        "id": "17-48530596-T-A",
        "variant": "17:48530596 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 48530596,
          "referenceAllele": "T",
          "start": 48530595
        }
      ],
      "hgvs": [
        "NC_000017.11:g.48530596T>A",
        "CM000679.2:g.48530596T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 46607958,
          "referenceAllele": "T",
          "start": 46607957
        }
      ],
      "hgvs": [
        "NC_000017.10:g.46607958T>A",
        "CM000679.1:g.46607958T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 43962957,
          "referenceAllele": "T",
          "start": 43962956
        }
      ],
      "hgvs": [
        "NC_000017.9:g.43962957T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5315,
          "referenceAllele": "A",
          "start": 5314
        }
      ],
      "hgvs": [
        "NG_032884.1:g.5315A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005252"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "referenceAllele": "A",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005111",
      "geneNCBI_id": 3211,
      "geneSymbol": "HOXB1",
      "hgvs": [
        "ENST00000239174.7:c.309A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355140.5:p.Gln103His",
        "hgvsWellDefined": "ENSP00000355140.5:p.Gln103His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000239174.7:c.309A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002144.4:c.309A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355140.5:p.Gln103His"
          },
          "RefSeq": {
            "hgvs": "NP_002135.2:p.Gln103His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "A",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005111",
      "geneNCBI_id": 3211,
      "geneSymbol": "HOXB1",
      "hgvs": [
        "ENST00000239174.6:c.309A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355140.5:p.Gln103His",
        "hgvsWellDefined": "ENSP00000355140.5:p.Gln103His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 315,
          "referenceAllele": "A",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005111",
      "geneNCBI_id": 3211,
      "geneSymbol": "HOXB1",
      "hgvs": [
        "ENST00000577092.1:c.309A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459066.1:p.Gln103His",
        "hgvsWellDefined": "ENSP00000459066.1:p.Gln103His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384715"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499260504",
      "coordinates": [
        {
          "allele": "T",
          "end": 315,
          "referenceAllele": "A",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005111",
      "geneNCBI_id": 3211,
      "geneSymbol": "HOXB1",
      "hgvs": [
        "NM_002144.3:c.309A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002135.2:p.Gln103His",
        "hgvsWellDefined": "NP_002135.2:p.Gln103His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499260504",
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "referenceAllele": "A",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005111",
      "geneNCBI_id": 3211,
      "geneSymbol": "HOXB1",
      "hgvs": [
        "NM_002144.4:c.309A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002135.2:p.Gln103His",
        "hgvsWellDefined": "NP_002135.2:p.Gln103His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665371",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000239174.7:c.309A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002144.4:c.309A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355140.5:p.Gln103His"
          },
          "RefSeq": {
            "hgvs": "NP_002135.2:p.Gln103His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}