{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1362297082",
  "communityStandardTitle": [
    "NM_000258.3(MYL3):c.461G= (p.Arg154=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893749",
        "rs": 104893749
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 46859495,
          "referenceAllele": "C",
          "start": 46859494
        }
      ],
      "hgvs": [
        "NC_000003.12:g.46859495C=",
        "CM000665.2:g.46859495C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 46900985,
          "referenceAllele": "C",
          "start": 46900984
        }
      ],
      "hgvs": [
        "NC_000003.11:g.46900985C=",
        "CM000665.1:g.46900985C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 46875989,
          "referenceAllele": "C",
          "start": 46875988
        }
      ],
      "hgvs": [
        "NC_000003.10:g.46875989C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 27675,
          "referenceAllele": "G",
          "start": 27674
        }
      ],
      "hgvs": [
        "NG_007555.2:g.27675G=",
        "LRG_395:g.27675G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000645"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "referenceAllele": "G",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000431168.2:c.461G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393455.2:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000292327.6:c.461G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292327.4:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744109",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292327.6:c.461G="
          },
          "RefSeq": {
            "hgvs": "NM_000258.3:c.461G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292327.4:p.Arg154="
          },
          "RefSeq": {
            "hgvs": "NP_000249.1:p.Arg154="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000653454.1:c.461G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499624.1:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 659,
          "referenceAllele": "G",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000654597.1:c.461G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499406.1:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 683,
          "referenceAllele": "G",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000655244.1:n.683G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 593,
          "referenceAllele": "G",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000662933.1:c.461G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499577.1:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772797"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 419,
          "referenceAllele": "G",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000664891.1:n.419G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772876"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 554,
          "referenceAllele": "G",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000292327.4:c.461G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292327.4:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000395869.5:c.461G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379210.1:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068384500",
      "coordinates": [
        {
          "allele": "G",
          "end": 554,
          "referenceAllele": "G",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "NM_000258.2:c.461G=",
        "LRG_395t1:c.461G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000249.1:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068384500",
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "NM_000258.3:c.461G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000249.1:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674765",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292327.6:c.461G="
          },
          "RefSeq": {
            "hgvs": "NM_000258.3:c.461G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292327.4:p.Arg154="
          },
          "RefSeq": {
            "hgvs": "NP_000249.1:p.Arg154="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}