{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA407443093",
  "communityStandardTitle": [
    "NM_000363.5(TNNI3):c.61C>A (p.Arg21Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=648501[alleleid]",
        "alleleId": 648501,
        "preferredName": "NM_000363.5(TNNI3):c.61C>A (p.Arg21Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/653975",
        "RCV": [
          "RCV000809848"
        ],
        "variationId": 653975
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55668465G>T?assembly=hg19",
        "id": "chr19:g.55668465G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55157097G>T?assembly=hg38",
        "id": "chr19:g.55157097G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607128",
        "rs": 267607128
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-55157097-G-T?dataset=gnomad_r4",
        "id": "19-55157097-G-T",
        "variant": "19:55157097 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55157097,
          "referenceAllele": "G",
          "start": 55157096
        }
      ],
      "hgvs": [
        "NC_000019.10:g.55157097G>T",
        "CM000681.2:g.55157097G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55668465,
          "referenceAllele": "G",
          "start": 55668464
        }
      ],
      "hgvs": [
        "NC_000019.9:g.55668465G>T",
        "CM000681.1:g.55668465G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 60360277,
          "referenceAllele": "G",
          "start": 60360276
        }
      ],
      "hgvs": [
        "NC_000019.8:g.60360277G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5636,
          "referenceAllele": "C",
          "start": 5635
        }
      ],
      "hgvs": [
        "NG_007866.2:g.5636C>A",
        "LRG_432:g.5636C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14626,
          "referenceAllele": "C",
          "start": 14625
        }
      ],
      "hgvs": [
        "NG_032759.1:g.14626C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005206"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000344887.10:c.61C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341838.5:p.Arg21Ser",
        "hgvsWellDefined": "ENSP00000341838.5:p.Arg21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748259",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344887.10:c.61C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000363.5:c.61C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341838.5:p.Arg21Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000354.4:p.Arg21Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000665070.1:c.61C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499482.1:p.Arg21Ser",
        "hgvsWellDefined": "ENSP00000499482.1:p.Arg21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000344887.9:c.61C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341838.5:p.Arg21Ser",
        "hgvsWellDefined": "ENSP00000341838.5:p.Arg21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 203,
          "referenceAllele": "C",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000586446.1:n.203C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389395"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 69,
          "referenceAllele": "C",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000586669.5:n.69C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 245,
          "referenceAllele": "C",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000587176.5:n.245C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "hgvs": [
        "ENST00000587871.1:c.680C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 233,
          "referenceAllele": "C",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000590463.1:n.233C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915962064",
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "NM_000363.4:c.61C>A",
        "LRG_432t1:c.61C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000354.4:p.Arg21Ser",
        "hgvsWellDefined": "NP_000354.4:p.Arg21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006425"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915962064",
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "NM_000363.5:c.61C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000354.4:p.Arg21Ser",
        "hgvsWellDefined": "NP_000354.4:p.Arg21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344887.10:c.61C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000363.5:c.61C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341838.5:p.Arg21Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000354.4:p.Arg21Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}