{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA021835",
  "communityStandardTitle": [
    "NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27464[alleleid]",
        "alleleId": 27464,
        "preferredName": "NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12425",
        "RCV": [
          "RCV000013238",
          "RCV001331172"
        ],
        "variationId": 12425
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55665415T>C?assembly=hg19",
        "id": "chr19:g.55665415T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55154047T>C?assembly=hg38",
        "id": "chr19:g.55154047T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894730",
        "rs": 104894730
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 55154047,
          "referenceAllele": "T",
          "start": 55154046
        }
      ],
      "hgvs": [
        "NC_000019.10:g.55154047T>C",
        "CM000681.2:g.55154047T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 55665415,
          "referenceAllele": "T",
          "start": 55665414
        }
      ],
      "hgvs": [
        "NC_000019.9:g.55665415T>C",
        "CM000681.1:g.55665415T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 60357227,
          "referenceAllele": "T",
          "start": 60357226
        }
      ],
      "hgvs": [
        "NC_000019.8:g.60357227T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8686,
          "referenceAllele": "A",
          "start": 8685
        }
      ],
      "hgvs": [
        "NG_007866.2:g.8686A>G",
        "LRG_432:g.8686A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 192,
          "referenceAllele": "A",
          "start": 191
        }
      ],
      "hgvs": [
        "NG_011829.2:g.192A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002009"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "referenceAllele": "A",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000344887.10:c.532A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341838.5:p.Lys178Glu",
        "hgvsWellDefined": "ENSP00000341838.5:p.Lys178Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748259",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344887.10:c.532A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000363.5:c.532A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341838.5:p.Lys178Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000354.4:p.Lys178Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 708,
          "referenceAllele": "A",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000665070.1:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499482.1:p.Lys189Glu",
        "hgvsWellDefined": "ENSP00000499482.1:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "referenceAllele": "A",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000344887.9:c.532A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341838.5:p.Lys178Glu",
        "hgvsWellDefined": "ENSP00000341838.5:p.Lys178Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "referenceAllele": "A",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000585806.5:n.531A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 505,
          "referenceAllele": "A",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000588882.1:c.457A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466729.1:p.Lys153Glu",
        "hgvsWellDefined": "ENSP00000466729.1:p.Lys153Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 360,
          "referenceAllele": "A",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000589864.1:n.360A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391790"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099314",
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "referenceAllele": "A",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "NM_000363.4:c.532A>G",
        "LRG_432t1:c.532A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000354.4:p.Lys178Glu",
        "hgvsWellDefined": "NP_000354.4:p.Lys178Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006425"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099314",
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "referenceAllele": "A",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "NM_000363.5:c.532A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000354.4:p.Lys178Glu",
        "hgvsWellDefined": "NP_000354.4:p.Lys178Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344887.10:c.532A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000363.5:c.532A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341838.5:p.Lys178Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000354.4:p.Lys178Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}