{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA485765765",
  "communityStandardTitle": [
    "NM_002471.4(MYH6):c.324C>A (p.Arg108=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2410477[alleleid]",
        "alleleId": 2410477,
        "preferredName": "NM_002471.4(MYH6):c.324C>A (p.Arg108=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2433914",
        "RCV": [
          "RCV003131639",
          "RCV003514604"
        ],
        "variationId": 2433914
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.23874857G>T?assembly=hg19",
        "id": "chr14:g.23874857G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1891763616",
        "rs": 1891763616
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 23405648,
          "referenceAllele": "G",
          "start": 23405647
        }
      ],
      "hgvs": [
        "NC_000014.9:g.23405648G>T",
        "CM000676.2:g.23405648G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 23874857,
          "referenceAllele": "G",
          "start": 23874856
        }
      ],
      "hgvs": [
        "NC_000014.8:g.23874857G>T",
        "CM000676.1:g.23874857G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 22944697,
          "referenceAllele": "G",
          "start": 22944696
        }
      ],
      "hgvs": [
        "NC_000014.7:g.22944697G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7630,
          "referenceAllele": "C",
          "start": 7629
        }
      ],
      "hgvs": [
        "NG_023444.1:g.7630C>A",
        "LRG_389:g.7630C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003871"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "ENST00000405093.9:c.324C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386041.3:p.Arg108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754116",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405093.9:c.324C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002471.4:c.324C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386041.3:p.Arg108="
          },
          "RefSeq": {
            "hgvs": "NP_002462.2:p.Arg108="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "ENST00000557461.2:n.391C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "ENST00000356287.3:c.324C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348634.3:p.Arg108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "ENST00000405093.7:c.324C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386041.3:p.Arg108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 378,
          "referenceAllele": "C",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "ENST00000557461.1:n.378C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373050"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829390557",
      "coordinates": [
        {
          "allele": "A",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "NM_002471.3:c.324C>A",
        "LRG_389t1:c.324C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002462.2:p.Arg108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829390557",
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "NM_002471.4:c.324C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002462.2:p.Arg108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727281",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405093.9:c.324C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002471.4:c.324C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386041.3:p.Arg108="
          },
          "RefSeq": {
            "hgvs": "NP_002462.2:p.Arg108="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}