{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2340790403",
  "communityStandardTitle": [
    "NM_001145809.2(MYH14):c.20C= (p.Ser7=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119103279",
        "rs": 119103279
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 50210385,
          "referenceAllele": "C",
          "start": 50210384
        }
      ],
      "hgvs": [
        "NC_000019.10:g.50210385C=",
        "CM000681.2:g.50210385C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 50713642,
          "referenceAllele": "C",
          "start": 50713641
        }
      ],
      "hgvs": [
        "NC_000019.9:g.50713642C=",
        "CM000681.1:g.50713642C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 55405454,
          "referenceAllele": "C",
          "start": 55405453
        }
      ],
      "hgvs": [
        "NC_000019.8:g.55405454C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11758,
          "referenceAllele": "C",
          "start": 11757
        }
      ],
      "hgvs": [
        "NG_011645.1:g.11758C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001879"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73,
          "referenceAllele": "C",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000425460.6:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407879.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73,
          "referenceAllele": "C",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000642316.2:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493594.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642316.2:c.20C="
          },
          "RefSeq": {
            "hgvs": "NM_001145809.2:c.20C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493594.1:p.Ser7="
          },
          "RefSeq": {
            "hgvs": "NP_001139281.1:p.Ser7="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120,
          "referenceAllele": "C",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000642980.1:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493650.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 61,
          "referenceAllele": "C",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000646861.1:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493667.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67,
          "referenceAllele": "C",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000376970.6:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366169.3:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67,
          "referenceAllele": "C",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000425460.5:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407879.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67,
          "referenceAllele": "C",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000440075.6:c.-2149C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406273.3:n.-2149C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20,
          "referenceAllele": "C",
          "start": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000596571.5:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472819.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 145,
          "referenceAllele": "C",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000598205.5:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472543.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 58,
          "referenceAllele": "C",
          "start": 57
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000599920.5:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469573.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50,
          "referenceAllele": "C",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000601313.5:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470298.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67,
          "referenceAllele": "C",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "NM_001077186.1:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001070654.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67,
          "referenceAllele": "C",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "NM_001145809.1:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001139281.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085875691",
      "coordinates": [
        {
          "allele": "C",
          "end": 67,
          "referenceAllele": "C",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "NM_024729.3:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "NP_079005.3:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037969"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120,
          "referenceAllele": "C",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_006723386.2:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723449.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 145,
          "referenceAllele": "C",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_011527320.1:c.140C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525622.1:p.Ser47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 145,
          "referenceAllele": "C",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_011527321.1:c.140C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525623.1:p.Ser47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 145,
          "referenceAllele": "C",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_011527322.1:c.140C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525624.1:p.Ser47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_011527323.1:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525625.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "C",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_006723386.4:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723449.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 145,
          "referenceAllele": "C",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_011527320.2:c.140C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525622.1:p.Ser47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 145,
          "referenceAllele": "C",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_011527321.2:c.140C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525623.1:p.Ser47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 135,
          "referenceAllele": "C",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_011527323.2:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525625.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "C",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_024451721.1:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307489.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585232"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73,
          "referenceAllele": "C",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "NM_001077186.2:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001070654.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73,
          "referenceAllele": "C",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "NM_001145809.2:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001139281.1:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677942",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642316.2:c.20C="
          },
          "RefSeq": {
            "hgvs": "NM_001145809.2:c.20C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493594.1:p.Ser7="
          },
          "RefSeq": {
            "hgvs": "NP_001139281.1:p.Ser7="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085875691",
      "coordinates": [
        {
          "allele": "C",
          "end": 73,
          "referenceAllele": "C",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "NM_024729.4:c.20C="
      ],
      "proteinEffect": {
        "hgvs": "NP_079005.3:p.Ser7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728666"
    }
  ],
  "type": "nucleotide"
}