{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA021546",
  "communityStandardTitle": [
    "NM_000363.5(TNNI3):c.368C>T (p.Thr123Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52546[alleleid]",
        "alleleId": 52546,
        "preferredName": "NM_000363.5(TNNI3):c.368C>T (p.Thr123Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43376",
        "RCV": [
          "RCV000036285",
          "RCV001185542",
          "RCV001219056",
          "RCV004018788",
          "RCV004549440"
        ],
        "variationId": 43376
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-55666113-G-A",
        "id": "19-55666113-G-A",
        "variant": "19:55666113 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55666113G>A?assembly=hg19",
        "id": "chr19:g.55666113G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55154745G>A?assembly=hg38",
        "id": "chr19:g.55154745G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397516345",
        "rs": 397516345
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-55666113-G-A?dataset=gnomad_r2_1",
        "id": "19-55666113-G-A",
        "variant": "19:55666113 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-55154745-G-A?dataset=gnomad_r3",
        "id": "19-55154745-G-A",
        "variant": "19:55154745 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-55154745-G-A?dataset=gnomad_r4",
        "id": "19-55154745-G-A",
        "variant": "19:55154745 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 55154745,
          "referenceAllele": "G",
          "start": 55154744
        }
      ],
      "hgvs": [
        "NC_000019.10:g.55154745G>A",
        "CM000681.2:g.55154745G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 55666113,
          "referenceAllele": "G",
          "start": 55666112
        }
      ],
      "hgvs": [
        "NC_000019.9:g.55666113G>A",
        "CM000681.1:g.55666113G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 60357925,
          "referenceAllele": "G",
          "start": 60357924
        }
      ],
      "hgvs": [
        "NC_000019.8:g.60357925G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7988,
          "referenceAllele": "C",
          "start": 7987
        }
      ],
      "hgvs": [
        "NG_007866.2:g.7988C>T",
        "LRG_432:g.7988C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000679"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000344887.10:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341838.5:p.Thr123Met",
        "hgvsWellDefined": "ENSP00000341838.5:p.Thr123Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748259",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344887.10:c.368C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000363.5:c.368C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341838.5:p.Thr123Met"
          },
          "RefSeq": {
            "hgvs": "NP_000354.4:p.Thr123Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000665070.1:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499482.1:p.Thr123Met",
        "hgvsWellDefined": "ENSP00000499482.1:p.Thr123Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000344887.9:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341838.5:p.Thr123Met",
        "hgvsWellDefined": "ENSP00000341838.5:p.Thr123Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "C",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000585806.5:n.367C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000586669.5:n.376C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "referenceAllele": "C",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000587176.5:n.552C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000588882.1:c.293C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466729.1:p.Thr98Met",
        "hgvsWellDefined": "ENSP00000466729.1:p.Thr98Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA132498",
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "NM_000363.4:c.368C>T",
        "LRG_432t1:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000354.4:p.Thr123Met",
        "hgvsWellDefined": "NP_000354.4:p.Thr123Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006425"
    },
    {
      "@id": "http://reg.genome.network/allele/PA132498",
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "NM_000363.5:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000354.4:p.Thr123Met",
        "hgvsWellDefined": "NP_000354.4:p.Thr123Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344887.10:c.368C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000363.5:c.368C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341838.5:p.Thr123Met"
          },
          "RefSeq": {
            "hgvs": "NP_000354.4:p.Thr123Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}