{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139663384",
  "communityStandardTitle": [
    "NM_000257.4(MYH7):c.202-3C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=916542[alleleid]",
        "alleleId": 916542,
        "preferredName": "NM_000257.4(MYH7):c.202-3C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/921238",
        "RCV": [
          "RCV001180507"
        ],
        "variationId": 921238
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/112935906",
        "rs": 112935906
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 23433230,
          "referenceAllele": "G",
          "start": 23433229
        }
      ],
      "hgvs": [
        "NC_000014.9:g.23433230G>A",
        "CM000676.2:g.23433230G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 23902439,
          "referenceAllele": "G",
          "start": 23902438
        }
      ],
      "hgvs": [
        "NC_000014.8:g.23902439G>A",
        "CM000676.1:g.23902439G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 22972279,
          "referenceAllele": "G",
          "start": 22972278
        }
      ],
      "hgvs": [
        "NC_000014.7:g.22972279G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7432,
          "referenceAllele": "C",
          "start": 7431
        }
      ],
      "hgvs": [
        "NG_007884.1:g.7432C>T",
        "LRG_384:g.7432C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000691"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 306,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "ENST00000355349.4:c.202-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347507.3:n.202-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748658",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355349.4:c.202-3C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000257.4:c.202-3C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347507.3:n.202-3C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000248.2:n.202-3C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 364,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 364,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "ENST00000355349.3:c.202-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347507.3:n.202-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 332,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "NM_000257.3:c.202-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000248.2:n.202-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 307,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "XR_245686.3:n.308-3C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 267,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 267,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "XM_017021340.1:c.202-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876829.1:n.202-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 306,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "NM_000257.4:c.202-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000248.2:n.202-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662372",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355349.4:c.202-3C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000257.4:c.202-3C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347507.3:n.202-3C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000248.2:n.202-3C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}