{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA407441727",
  "communityStandardTitle": [
    "NM_000363.5(TNNI3):c.244C>A (p.Pro82Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4870178[alleleid]",
        "alleleId": 4870178,
        "preferredName": "NM_000363.5(TNNI3):c.244C>A (p.Pro82Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4758850",
        "RCV": [
          "RCV006552254"
        ],
        "variationId": 4758850
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55667607G>T?assembly=hg19",
        "id": "chr19:g.55667607G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55156239G>T?assembly=hg38",
        "id": "chr19:g.55156239G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/77615401",
        "rs": 77615401
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-55156239-G-T?dataset=gnomad_r4",
        "id": "19-55156239-G-T",
        "variant": "19:55156239 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55156239,
          "referenceAllele": "G",
          "start": 55156238
        }
      ],
      "hgvs": [
        "NC_000019.10:g.55156239G>T",
        "CM000681.2:g.55156239G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55667607,
          "referenceAllele": "G",
          "start": 55667606
        }
      ],
      "hgvs": [
        "NC_000019.9:g.55667607G>T",
        "CM000681.1:g.55667607G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 60359419,
          "referenceAllele": "G",
          "start": 60359418
        }
      ],
      "hgvs": [
        "NC_000019.8:g.60359419G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6494,
          "referenceAllele": "C",
          "start": 6493
        }
      ],
      "hgvs": [
        "NG_007866.2:g.6494C>A",
        "LRG_432:g.6494C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000679"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000344887.10:c.244C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341838.5:p.Pro82Thr",
        "hgvsWellDefined": "ENSP00000341838.5:p.Pro82Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748259",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344887.10:c.244C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000363.5:c.244C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341838.5:p.Pro82Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000354.4:p.Pro82Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000665070.1:c.244C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499482.1:p.Pro82Thr",
        "hgvsWellDefined": "ENSP00000499482.1:p.Pro82Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000344887.9:c.244C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341838.5:p.Pro82Thr",
        "hgvsWellDefined": "ENSP00000341838.5:p.Pro82Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 243,
          "referenceAllele": "C",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000585806.5:n.243C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 252,
          "referenceAllele": "C",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000586669.5:n.252C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "C",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000587176.5:n.428C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "referenceAllele": "C",
          "start": 862
        }
      ],
      "hgvs": [
        "ENST00000587871.1:c.863C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "referenceAllele": "C",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000588882.1:c.169C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466729.1:p.Pro57Thr",
        "hgvsWellDefined": "ENSP00000466729.1:p.Pro57Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 416,
          "referenceAllele": "C",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000590463.1:n.416C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085866757",
      "coordinates": [
        {
          "allele": "A",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "NM_000363.4:c.244C>A",
        "LRG_432t1:c.244C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000354.4:p.Pro82Thr",
        "hgvsWellDefined": "NP_000354.4:p.Pro82Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006425"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085866757",
      "coordinates": [
        {
          "allele": "A",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "NM_000363.5:c.244C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000354.4:p.Pro82Thr",
        "hgvsWellDefined": "NP_000354.4:p.Pro82Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344887.10:c.244C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000363.5:c.244C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341838.5:p.Pro82Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000354.4:p.Pro82Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}