{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8337820",
  "communityStandardTitle": [
    "NM_000018.4(ACADVL):c.728T>A (p.Leu243His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=921084[alleleid]",
        "alleleId": 921084,
        "preferredName": "NM_000018.4(ACADVL):c.728T>A (p.Leu243His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/932890",
        "RCV": [
          "RCV001200856",
          "RCV003396815"
        ],
        "variationId": 932890
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-7125376-T-A",
        "id": "17-7125376-T-A",
        "variant": "17:7125376 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7125376T>A?assembly=hg19",
        "id": "chr17:g.7125376T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7222057T>A?assembly=hg38",
        "id": "chr17:g.7222057T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/772999007",
        "rs": 772999007
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7125376-T-A?dataset=gnomad_r2_1",
        "id": "17-7125376-T-A",
        "variant": "17:7125376 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7222057-T-A?dataset=gnomad_r4",
        "id": "17-7222057-T-A",
        "variant": "17:7222057 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7222057,
          "referenceAllele": "T",
          "start": 7222056
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7222057T>A",
        "CM000679.2:g.7222057T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7125376,
          "referenceAllele": "T",
          "start": 7125375
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7125376T>A",
        "CM000679.1:g.7125376T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7066100,
          "referenceAllele": "T",
          "start": 7066099
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7066100T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7224,
          "referenceAllele": "T",
          "start": 7223
        }
      ],
      "hgvs": [
        "NG_007975.1:g.7224T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2994,
          "referenceAllele": "A",
          "start": 2993
        }
      ],
      "hgvs": [
        "NG_008391.2:g.2994A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 775,
          "referenceAllele": "T",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.10:c.728T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Leu243His",
        "hgvsWellDefined": "ENSP00000349297.5:p.Leu243His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.728T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.728T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Leu243His"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Leu243His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 944,
          "referenceAllele": "T",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000322910.9:c.*683T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325395.5:n.*683T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 784,
          "referenceAllele": "T",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000350303.9:c.662T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344152.5:p.Leu221His",
        "hgvsWellDefined": "ENSP00000344152.5:p.Leu221His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 907,
          "referenceAllele": "T",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.9:c.728T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Leu243His",
        "hgvsWellDefined": "ENSP00000349297.5:p.Leu243His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 818,
          "referenceAllele": "T",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000543245.6:c.797T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438689.2:p.Leu266His",
        "hgvsWellDefined": "ENSP00000438689.2:p.Leu266His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "T",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000577191.5:n.805T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000577857.5:n.544T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 909,
          "referenceAllele": "T",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579286.5:n.909T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 459,
          "referenceAllele": "T",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000580365.1:n.459T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "T",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000581378.5:c.446T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "referenceAllele": "T",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000582379.1:n.112T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "referenceAllele": "T",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583760.1:n.510T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825003843",
      "coordinates": [
        {
          "allele": "A",
          "end": 882,
          "referenceAllele": "T",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.3:c.728T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Leu243His",
        "hgvsWellDefined": "NP_000009.1:p.Leu243His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374422",
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "referenceAllele": "T",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.2:c.662T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Leu221His",
        "hgvsWellDefined": "NP_001029031.1:p.Leu221His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139689245",
      "coordinates": [
        {
          "allele": "A",
          "end": 818,
          "referenceAllele": "T",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.1:c.797T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Leu266His",
        "hgvsWellDefined": "NP_001257376.1:p.Leu266His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826515676",
      "coordinates": [
        {
          "allele": "A",
          "end": 957,
          "referenceAllele": "T",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.1:c.500T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Leu167His",
        "hgvsWellDefined": "NP_001257377.1:p.Leu167His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "referenceAllele": "T",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.2:c.728T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Leu243His",
        "hgvsWellDefined": "XP_006721579.2:p.Leu243His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "referenceAllele": "T",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.1:c.728T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Leu243His",
        "hgvsWellDefined": "XP_011522131.1:p.Leu243His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "referenceAllele": "T",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.1:c.728T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Leu243His",
        "hgvsWellDefined": "XP_011522132.1:p.Leu243His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "referenceAllele": "T",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.1:n.835T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129466"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "referenceAllele": "T",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.1:n.835T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "referenceAllele": "T",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.1:n.835T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "T",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.3:c.728T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Leu243His",
        "hgvsWellDefined": "XP_006721579.2:p.Leu243His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "T",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.2:c.728T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Leu243His",
        "hgvsWellDefined": "XP_011522131.1:p.Leu243His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "T",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.2:c.728T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Leu243His",
        "hgvsWellDefined": "XP_011522132.1:p.Leu243His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "T",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_024450741.1:c.728T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306509.1:p.Leu243His",
        "hgvsWellDefined": "XP_024306509.1:p.Leu243His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "T",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.2:n.787T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "T",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.2:n.787T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "T",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.2:n.787T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825003843",
      "coordinates": [
        {
          "allele": "A",
          "end": 775,
          "referenceAllele": "T",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.4:c.728T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Leu243His",
        "hgvsWellDefined": "NP_000009.1:p.Leu243His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.728T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.728T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Leu243His"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Leu243His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374422",
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "referenceAllele": "T",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.3:c.662T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Leu221His",
        "hgvsWellDefined": "NP_001029031.1:p.Leu221His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139689245",
      "coordinates": [
        {
          "allele": "A",
          "end": 818,
          "referenceAllele": "T",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.2:c.797T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Leu266His",
        "hgvsWellDefined": "NP_001257376.1:p.Leu266His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826515676",
      "coordinates": [
        {
          "allele": "A",
          "end": 850,
          "referenceAllele": "T",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.2:c.500T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Leu167His",
        "hgvsWellDefined": "NP_001257377.1:p.Leu167His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715164"
    }
  ],
  "type": "nucleotide"
}