{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA407440316",
  "communityStandardTitle": [
    "NM_000363.5(TNNI3):c.502G>A (p.Asp168Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415670[alleleid]",
        "alleleId": 415670,
        "preferredName": "NM_000363.5(TNNI3):c.502G>A (p.Asp168Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/427197",
        "RCV": [
          "RCV000489372",
          "RCV004003432",
          "RCV002350090"
        ],
        "variationId": 427197
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55665445C>T?assembly=hg19",
        "id": "chr19:g.55665445C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55154077C>T?assembly=hg38",
        "id": "chr19:g.55154077C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085308019",
        "rs": 1085308019
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-55154077-C-T?dataset=gnomad_r4",
        "id": "19-55154077-C-T",
        "variant": "19:55154077 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55154077,
          "referenceAllele": "C",
          "start": 55154076
        }
      ],
      "hgvs": [
        "NC_000019.10:g.55154077C>T",
        "CM000681.2:g.55154077C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55665445,
          "referenceAllele": "C",
          "start": 55665444
        }
      ],
      "hgvs": [
        "NC_000019.9:g.55665445C>T",
        "CM000681.1:g.55665445C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 60357257,
          "referenceAllele": "C",
          "start": 60357256
        }
      ],
      "hgvs": [
        "NC_000019.8:g.60357257C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8656,
          "referenceAllele": "G",
          "start": 8655
        }
      ],
      "hgvs": [
        "NG_007866.2:g.8656G>A",
        "LRG_432:g.8656G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 162,
          "referenceAllele": "G",
          "start": 161
        }
      ],
      "hgvs": [
        "NG_011829.2:g.162G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002009"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000344887.10:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341838.5:p.Asp168Asn",
        "hgvsWellDefined": "ENSP00000341838.5:p.Asp168Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748259",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344887.10:c.502G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000363.5:c.502G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341838.5:p.Asp168Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000354.4:p.Asp168Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000665070.1:c.535G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499482.1:p.Asp179Asn",
        "hgvsWellDefined": "ENSP00000499482.1:p.Asp179Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000344887.9:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341838.5:p.Asp168Asn",
        "hgvsWellDefined": "ENSP00000341838.5:p.Asp168Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "referenceAllele": "G",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000585806.5:n.501G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 475,
          "referenceAllele": "G",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000588882.1:c.427G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466729.1:p.Asp143Asn",
        "hgvsWellDefined": "ENSP00000466729.1:p.Asp143Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000589864.1:n.330G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391790"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645493298",
      "coordinates": [
        {
          "allele": "A",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "NM_000363.4:c.502G>A",
        "LRG_432t1:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000354.4:p.Asp168Asn",
        "hgvsWellDefined": "NP_000354.4:p.Asp168Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006425"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645493298",
      "coordinates": [
        {
          "allele": "A",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "NM_000363.5:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000354.4:p.Asp168Asn",
        "hgvsWellDefined": "NP_000354.4:p.Asp168Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344887.10:c.502G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000363.5:c.502G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341838.5:p.Asp168Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000354.4:p.Asp168Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}