{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA389035690",
  "communityStandardTitle": [
    "NM_000257.4(MYH7):c.5378T>A (p.Leu1793Gln)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.23884385A>T?assembly=hg19",
        "id": "chr14:g.23884385A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.23415176A>T?assembly=hg38",
        "id": "chr14:g.23415176A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913654",
        "rs": 121913654
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 23415176,
          "referenceAllele": "A",
          "start": 23415175
        }
      ],
      "hgvs": [
        "NC_000014.9:g.23415176A>T",
        "CM000676.2:g.23415176A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 23884385,
          "referenceAllele": "A",
          "start": 23884384
        }
      ],
      "hgvs": [
        "NC_000014.8:g.23884385A>T",
        "CM000676.1:g.23884385A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 22954225,
          "referenceAllele": "A",
          "start": 22954224
        }
      ],
      "hgvs": [
        "NC_000014.7:g.22954225A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25486,
          "referenceAllele": "T",
          "start": 25485
        }
      ],
      "hgvs": [
        "NG_007884.1:g.25486T>A",
        "LRG_384:g.25486T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000691"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5483,
          "referenceAllele": "T",
          "start": 5482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "ENST00000355349.4:c.5378T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347507.3:p.Leu1793Gln",
        "hgvsWellDefined": "ENSP00000347507.3:p.Leu1793Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748658",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355349.4:c.5378T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000257.4:c.5378T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347507.3:p.Leu1793Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000248.2:p.Leu1793Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5541,
          "referenceAllele": "T",
          "start": 5540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "ENST00000355349.3:c.5378T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347507.3:p.Leu1793Gln",
        "hgvsWellDefined": "ENSP00000347507.3:p.Leu1793Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081110962",
      "coordinates": [
        {
          "allele": "A",
          "end": 5509,
          "referenceAllele": "T",
          "start": 5508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "NM_000257.3:c.5378T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000248.2:p.Leu1793Gln",
        "hgvsWellDefined": "NP_000248.2:p.Leu1793Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5444,
          "referenceAllele": "T",
          "start": 5443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "XM_017021340.1:c.5378T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876829.1:p.Leu1793Gln",
        "hgvsWellDefined": "XP_016876829.1:p.Leu1793Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572574"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081110962",
      "coordinates": [
        {
          "allele": "A",
          "end": 5483,
          "referenceAllele": "T",
          "start": 5482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "NM_000257.4:c.5378T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000248.2:p.Leu1793Gln",
        "hgvsWellDefined": "NP_000248.2:p.Leu1793Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662372",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355349.4:c.5378T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000257.4:c.5378T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347507.3:p.Leu1793Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000248.2:p.Leu1793Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}