{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2738907",
  "communityStandardTitle": [
    "NM_001966.4(EHHADH):c.1864C>T (p.Arg622Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=492567[alleleid]",
        "alleleId": 492567,
        "preferredName": "NM_001966.4(EHHADH):c.1864C>T (p.Arg622Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/501143",
        "RCV": [
          "RCV000591115",
          "RCV003980103"
        ],
        "variationId": 501143
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-184910322-G-A",
        "id": "3-184910322-G-A",
        "variant": "3:184910322 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.184910322G>A?assembly=hg19",
        "id": "chr3:g.184910322G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.185192534G>A?assembly=hg38",
        "id": "chr3:g.185192534G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199916968",
        "rs": 199916968
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-184910322-G-A?dataset=gnomad_r2_1",
        "id": "3-184910322-G-A",
        "variant": "3:184910322 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-185192534-G-A?dataset=gnomad_r3",
        "id": "3-185192534-G-A",
        "variant": "3:185192534 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-185192534-G-A?dataset=gnomad_r4",
        "id": "3-185192534-G-A",
        "variant": "3:185192534 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 185192534,
          "referenceAllele": "G",
          "start": 185192533
        }
      ],
      "hgvs": [
        "NC_000003.12:g.185192534G>A",
        "CM000665.2:g.185192534G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 184910322,
          "referenceAllele": "G",
          "start": 184910321
        }
      ],
      "hgvs": [
        "NC_000003.11:g.184910322G>A",
        "CM000665.1:g.184910322G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 186393016,
          "referenceAllele": "G",
          "start": 186393015
        }
      ],
      "hgvs": [
        "NC_000003.10:g.186393016G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66565,
          "referenceAllele": "C",
          "start": 66564
        }
      ],
      "hgvs": [
        "NG_015999.1:g.66565C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002945"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1891,
          "referenceAllele": "C",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "ENST00000231887.8:c.1864C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231887.3:p.Arg622Cys",
        "hgvsWellDefined": "ENSP00000231887.3:p.Arg622Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740876",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231887.8:c.1864C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001966.4:c.1864C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231887.3:p.Arg622Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001957.2:p.Arg622Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1940,
          "referenceAllele": "C",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "ENST00000231887.7:c.1864C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231887.3:p.Arg622Cys",
        "hgvsWellDefined": "ENSP00000231887.3:p.Arg622Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2013,
          "referenceAllele": "C",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "ENST00000456310.5:c.1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387746.1:p.Arg526Cys",
        "hgvsWellDefined": "ENSP00000387746.1:p.Arg526Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826031878",
      "coordinates": [
        {
          "allele": "T",
          "end": 2063,
          "referenceAllele": "C",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "NM_001166415.1:c.1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159887.1:p.Arg526Cys",
        "hgvsWellDefined": "NP_001159887.1:p.Arg526Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812362",
      "coordinates": [
        {
          "allele": "T",
          "end": 1940,
          "referenceAllele": "C",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "NM_001966.3:c.1864C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001957.2:p.Arg622Cys",
        "hgvsWellDefined": "NP_001957.2:p.Arg622Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1922,
          "referenceAllele": "C",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "XM_006713525.1:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713588.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006713588.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2767,
          "referenceAllele": "C",
          "start": 2766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "XM_011512517.1:c.1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510819.1:p.Arg526Cys",
        "hgvsWellDefined": "XP_011510819.1:p.Arg526Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812362",
      "coordinates": [
        {
          "allele": "T",
          "end": 1891,
          "referenceAllele": "C",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "NM_001966.4:c.1864C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001957.2:p.Arg622Cys",
        "hgvsWellDefined": "NP_001957.2:p.Arg622Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665277",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231887.8:c.1864C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001966.4:c.1864C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231887.3:p.Arg622Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001957.2:p.Arg622Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826031878",
      "coordinates": [
        {
          "allele": "T",
          "end": 2014,
          "referenceAllele": "C",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003247",
      "geneNCBI_id": 1962,
      "geneSymbol": "EHHADH",
      "hgvs": [
        "NM_001166415.2:c.1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159887.1:p.Arg526Cys",
        "hgvsWellDefined": "NP_001159887.1:p.Arg526Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678500"
    }
  ],
  "type": "nucleotide"
}