{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2341344292",
  "communityStandardTitle": [
    "NM_001985.3(ETFB):c.382G= (p.Asp128=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894678",
        "rs": 104894678
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 51350385,
          "referenceAllele": "C",
          "start": 51350384
        }
      ],
      "hgvs": [
        "NC_000019.10:g.51350385C=",
        "CM000681.2:g.51350385C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 51853639,
          "referenceAllele": "C",
          "start": 51853638
        }
      ],
      "hgvs": [
        "NC_000019.9:g.51853639C=",
        "CM000681.1:g.51853639C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 56545451,
          "referenceAllele": "C",
          "start": 56545450
        }
      ],
      "hgvs": [
        "NC_000019.8:g.56545451C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21034,
          "referenceAllele": "G",
          "start": 21033
        }
      ],
      "hgvs": [
        "NG_007115.1:g.21034G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000489"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 444,
          "referenceAllele": "G",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "ENST00000309244.9:c.382G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311930.3:p.Asp128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745526",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000309244.9:c.382G="
          },
          "RefSeq": {
            "hgvs": "NM_001985.3:c.382G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311930.3:p.Asp128="
          },
          "RefSeq": {
            "hgvs": "NP_001976.1:p.Asp128="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "ENST00000309244.8:c.382G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311930.3:p.Asp128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3123,
          "referenceAllele": "G",
          "start": 3122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "ENST00000354232.8:c.655G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346173.3:p.Asp219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 405,
          "referenceAllele": "G",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "ENST00000593992.1:n.405G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 263,
          "referenceAllele": "G",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "ENST00000596253.1:c.223G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469628.1:p.Asp75="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 539,
          "referenceAllele": "G",
          "start": 538
        }
      ],
      "hgvs": [
        "ENST00000600067.1:c.*308G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469452.1:n.*308G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 859,
          "referenceAllele": "G",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "NM_001014763.1:c.655G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001014763.1:p.Asp219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868692",
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "NM_001985.2:c.382G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001976.1:p.Asp128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "referenceAllele": "G",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "XM_024451418.1:c.271G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307186.1:p.Asp91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868692",
      "coordinates": [
        {
          "allele": "G",
          "end": 444,
          "referenceAllele": "G",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "NM_001985.3:c.382G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001976.1:p.Asp128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695421",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000309244.9:c.382G="
          },
          "RefSeq": {
            "hgvs": "NM_001985.3:c.382G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311930.3:p.Asp128="
          },
          "RefSeq": {
            "hgvs": "NP_001976.1:p.Asp128="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}