{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355675255",
  "communityStandardTitle": [
    "NM_001966.4(EHHADH):c.2142C>G (p.Ser714Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.184910044G>C?assembly=hg19",
        "id": "chr3:g.184910044G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.185192256G>C?assembly=hg38",
        "id": "chr3:g.185192256G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 185192256,
          "referenceAllele": "G",
          "start": 185192255
        }
      ],
      "hgvs": [
        "NC_000003.12:g.185192256G>C",
        "CM000665.2:g.185192256G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 184910044,
          "referenceAllele": "G",
          "start": 184910043
        }
      ],
      "hgvs": [
        "NC_000003.11:g.184910044G>C",
        "CM000665.1:g.184910044G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 186392738,
          "referenceAllele": "G",
          "start": 186392737
        }
      ],
      "hgvs": [
        "NC_000003.10:g.186392738G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66843,
          "referenceAllele": "C",
          "start": 66842
        }
      ],
      "hgvs": [
        "NG_015999.1:g.66843C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002945"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "ENST00000231887.8:c.2142C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231887.3:p.Ser714Arg",
        "hgvsWellDefined": "ENSP00000231887.3:p.Ser714Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740876",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231887.8:c.2142C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001966.4:c.2142C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231887.3:p.Ser714Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001957.2:p.Ser714Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2218,
          "referenceAllele": "C",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "ENST00000231887.7:c.2142C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231887.3:p.Ser714Arg",
        "hgvsWellDefined": "ENSP00000231887.3:p.Ser714Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2291,
          "referenceAllele": "C",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "ENST00000456310.5:c.1854C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387746.1:p.Ser618Arg",
        "hgvsWellDefined": "ENSP00000387746.1:p.Ser618Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826031905",
      "coordinates": [
        {
          "allele": "G",
          "end": 2341,
          "referenceAllele": "C",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "NM_001166415.1:c.1854C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159887.1:p.Ser618Arg",
        "hgvsWellDefined": "NP_001159887.1:p.Ser618Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829366450",
      "coordinates": [
        {
          "allele": "G",
          "end": 2218,
          "referenceAllele": "C",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "NM_001966.3:c.2142C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001957.2:p.Ser714Arg",
        "hgvsWellDefined": "NP_001957.2:p.Ser714Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2200,
          "referenceAllele": "C",
          "start": 2199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "XM_006713525.1:c.1518C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713588.1:p.Ser506Arg",
        "hgvsWellDefined": "XP_006713588.1:p.Ser506Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3045,
          "referenceAllele": "C",
          "start": 3044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "XM_011512517.1:c.1854C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510819.1:p.Ser618Arg",
        "hgvsWellDefined": "XP_011510819.1:p.Ser618Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829366450",
      "coordinates": [
        {
          "allele": "G",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "NM_001966.4:c.2142C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001957.2:p.Ser714Arg",
        "hgvsWellDefined": "NP_001957.2:p.Ser714Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665277",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231887.8:c.2142C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001966.4:c.2142C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231887.3:p.Ser714Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001957.2:p.Ser714Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826031905",
      "coordinates": [
        {
          "allele": "G",
          "end": 2292,
          "referenceAllele": "C",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "NM_001166415.2:c.1854C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159887.1:p.Ser618Arg",
        "hgvsWellDefined": "NP_001159887.1:p.Ser618Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678500"
    }
  ],
  "type": "nucleotide"
}