{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA021983",
  "communityStandardTitle": [
    "NM_000363.5(TNNI3):c.579G>C (p.Lys193Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52566[alleleid]",
        "alleleId": 52566,
        "preferredName": "NM_000363.5(TNNI3):c.579G>C (p.Lys193Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43396",
        "RCV": [
          "RCV000036307",
          "RCV000234031"
        ],
        "variationId": 43396
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55663256C>G?assembly=hg19",
        "id": "chr19:g.55663256C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55151888C>G?assembly=hg38",
        "id": "chr19:g.55151888C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397516358",
        "rs": 397516358
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 55151888,
          "referenceAllele": "C",
          "start": 55151887
        }
      ],
      "hgvs": [
        "NC_000019.10:g.55151888C>G",
        "CM000681.2:g.55151888C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 55663256,
          "referenceAllele": "C",
          "start": 55663255
        }
      ],
      "hgvs": [
        "NC_000019.9:g.55663256C>G",
        "CM000681.1:g.55663256C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 60355068,
          "referenceAllele": "C",
          "start": 60355067
        }
      ],
      "hgvs": [
        "NC_000019.8:g.60355068C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10845,
          "referenceAllele": "G",
          "start": 10844
        }
      ],
      "hgvs": [
        "NG_007866.2:g.10845G>C",
        "LRG_432:g.10845G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2351,
          "referenceAllele": "G",
          "start": 2350
        }
      ],
      "hgvs": [
        "NG_011829.2:g.2351G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002009"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000344887.10:c.579G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341838.5:p.Lys193Asn",
        "hgvsWellDefined": "ENSP00000341838.5:p.Lys193Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748259",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344887.10:c.579G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000363.5:c.579G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341838.5:p.Lys193Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000354.4:p.Lys193Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 755,
          "referenceAllele": "G",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000665070.1:c.612G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499482.1:p.Lys204Asn",
        "hgvsWellDefined": "ENSP00000499482.1:p.Lys204Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000344887.9:c.579G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341838.5:p.Lys193Asn",
        "hgvsWellDefined": "ENSP00000341838.5:p.Lys193Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000585806.5:n.578G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388959"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000588882.1:c.504G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466729.1:p.Lys168Asn",
        "hgvsWellDefined": "ENSP00000466729.1:p.Lys168Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 407,
          "referenceAllele": "G",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000589864.1:n.407G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391790"
    },
    {
      "@id": "http://reg.genome.network/allele/PA132516",
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "NM_000363.4:c.579G>C",
        "LRG_432t1:c.579G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000354.4:p.Lys193Asn",
        "hgvsWellDefined": "NP_000354.4:p.Lys193Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006425"
    },
    {
      "@id": "http://reg.genome.network/allele/PA132516",
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "NM_000363.5:c.579G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000354.4:p.Lys193Asn",
        "hgvsWellDefined": "NP_000354.4:p.Lys193Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344887.10:c.579G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000363.5:c.579G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341838.5:p.Lys193Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000354.4:p.Lys193Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}