{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397723510",
  "communityStandardTitle": [
    "NM_000018.4(ACADVL):c.710G>A (p.Cys237Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2930812[alleleid]",
        "alleleId": 2930812,
        "preferredName": "NM_000018.4(ACADVL):c.710G>A (p.Cys237Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2762316",
        "RCV": [
          "RCV003498657"
        ],
        "variationId": 2762316
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7125358G>A?assembly=hg19",
        "id": "chr17:g.7125358G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7222039G>A?assembly=hg38",
        "id": "chr17:g.7222039G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2508299118",
        "rs": 2508299118
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7222039,
          "referenceAllele": "G",
          "start": 7222038
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7222039G>A",
        "CM000679.2:g.7222039G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7125358,
          "referenceAllele": "G",
          "start": 7125357
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7125358G>A",
        "CM000679.1:g.7125358G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7066082,
          "referenceAllele": "G",
          "start": 7066081
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7066082G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7206,
          "referenceAllele": "G",
          "start": 7205
        }
      ],
      "hgvs": [
        "NG_007975.1:g.7206G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3012,
          "referenceAllele": "C",
          "start": 3011
        }
      ],
      "hgvs": [
        "NG_008391.2:g.3012C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "referenceAllele": "G",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.10:c.710G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Cys237Tyr",
        "hgvsWellDefined": "ENSP00000349297.5:p.Cys237Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.710G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.710G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Cys237Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Cys237Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000322910.9:c.*665G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325395.5:n.*665G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 766,
          "referenceAllele": "G",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000350303.9:c.644G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344152.5:p.Cys215Tyr",
        "hgvsWellDefined": "ENSP00000344152.5:p.Cys215Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.9:c.710G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Cys237Tyr",
        "hgvsWellDefined": "ENSP00000349297.5:p.Cys237Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 800,
          "referenceAllele": "G",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000543245.6:c.779G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438689.2:p.Cys260Tyr",
        "hgvsWellDefined": "ENSP00000438689.2:p.Cys260Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000577191.5:n.787G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000577857.5:n.526G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579286.5:n.891G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000580365.1:n.441G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "G",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000581378.5:c.428G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 94,
          "referenceAllele": "G",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000582379.1:n.94G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583760.1:n.492G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825003836",
      "coordinates": [
        {
          "allele": "A",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.3:c.710G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Cys237Tyr",
        "hgvsWellDefined": "NP_000009.1:p.Cys237Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374415",
      "coordinates": [
        {
          "allele": "A",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.2:c.644G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Cys215Tyr",
        "hgvsWellDefined": "NP_001029031.1:p.Cys215Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741850172",
      "coordinates": [
        {
          "allele": "A",
          "end": 800,
          "referenceAllele": "G",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.1:c.779G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Cys260Tyr",
        "hgvsWellDefined": "NP_001257376.1:p.Cys260Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826515660",
      "coordinates": [
        {
          "allele": "A",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.1:c.482G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Cys161Tyr",
        "hgvsWellDefined": "NP_001257377.1:p.Cys161Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.2:c.710G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Cys237Tyr",
        "hgvsWellDefined": "XP_006721579.2:p.Cys237Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.1:c.710G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Cys237Tyr",
        "hgvsWellDefined": "XP_011522131.1:p.Cys237Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.1:c.710G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Cys237Tyr",
        "hgvsWellDefined": "XP_011522132.1:p.Cys237Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.1:n.817G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129466"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.1:n.817G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.1:n.817G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.3:c.710G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Cys237Tyr",
        "hgvsWellDefined": "XP_006721579.2:p.Cys237Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.2:c.710G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Cys237Tyr",
        "hgvsWellDefined": "XP_011522131.1:p.Cys237Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.2:c.710G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Cys237Tyr",
        "hgvsWellDefined": "XP_011522132.1:p.Cys237Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_024450741.1:c.710G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306509.1:p.Cys237Tyr",
        "hgvsWellDefined": "XP_024306509.1:p.Cys237Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.2:n.769G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.2:n.769G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.2:n.769G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825003836",
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "referenceAllele": "G",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.4:c.710G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Cys237Tyr",
        "hgvsWellDefined": "NP_000009.1:p.Cys237Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.710G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.710G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Cys237Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Cys237Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374415",
      "coordinates": [
        {
          "allele": "A",
          "end": 691,
          "referenceAllele": "G",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.3:c.644G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Cys215Tyr",
        "hgvsWellDefined": "NP_001029031.1:p.Cys215Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741850172",
      "coordinates": [
        {
          "allele": "A",
          "end": 800,
          "referenceAllele": "G",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.2:c.779G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Cys260Tyr",
        "hgvsWellDefined": "NP_001257376.1:p.Cys260Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826515660",
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.2:c.482G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Cys161Tyr",
        "hgvsWellDefined": "NP_001257377.1:p.Cys161Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715164"
    }
  ],
  "type": "nucleotide"
}