{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1400924338",
  "communityStandardTitle": [
    "NM_014049.5(ACAD9):c.976G= (p.Ala326=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/115532916",
        "rs": 115532916
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 128904079,
          "referenceAllele": "G",
          "start": 128904078
        }
      ],
      "hgvs": [
        "NC_000003.12:g.128904079G=",
        "CM000665.2:g.128904079G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 128622922,
          "referenceAllele": "G",
          "start": 128622921
        }
      ],
      "hgvs": [
        "NC_000003.11:g.128622922G=",
        "CM000665.1:g.128622922G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 130105612,
          "referenceAllele": "G",
          "start": 130105611
        }
      ],
      "hgvs": [
        "NC_000003.10:g.130105612G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29590,
          "referenceAllele": "G",
          "start": 29589
        }
      ],
      "hgvs": [
        "NG_017064.1:g.29590G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003400"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1048,
          "referenceAllele": "G",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000308982.12:c.976G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312618.7:p.Ala326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745505",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308982.12:c.976G="
          },
          "RefSeq": {
            "hgvs": "NM_014049.5:c.976G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000312618.7:p.Ala326="
          },
          "RefSeq": {
            "hgvs": "NP_054768.2:p.Ala326="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "G",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000511325.2:n.1054G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1221,
          "referenceAllele": "G",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000679399.1:c.*870G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505434.1:n.*870G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1183,
          "referenceAllele": "G",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000679431.1:c.*852G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506440.1:n.*852G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779062"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1072,
          "referenceAllele": "G",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000679613.1:c.976G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504971.1:p.Ala326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2356,
          "referenceAllele": "G",
          "start": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000679715.1:c.607G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506228.1:p.Ala203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2602,
          "referenceAllele": "G",
          "start": 2601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000679824.1:c.*2282G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505516.1:n.*2282G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1211,
          "referenceAllele": "G",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000679990.1:n.1211G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "G",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000680636.1:c.976G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504886.1:p.Ala326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1090,
          "referenceAllele": "G",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000680744.1:c.*329G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505243.1:n.*329G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780359"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2711,
          "referenceAllele": "G",
          "start": 2710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000680764.1:c.*2380G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505126.1:n.*2380G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "G",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000681319.1:n.1054G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780929"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1072,
          "referenceAllele": "G",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000681367.1:c.976G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505309.1:p.Ala326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1045,
          "referenceAllele": "G",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000681552.1:c.976G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505699.1:p.Ala326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1072,
          "referenceAllele": "G",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000681583.1:c.976G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506340.1:p.Ala326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "G",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000681585.1:c.976G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506316.1:p.Ala326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1190,
          "referenceAllele": "G",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000681589.1:n.1190G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "G",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000681784.1:n.1054G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000681886.1:c.*169G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506500.1:n.*169G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1057,
          "referenceAllele": "G",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000308982.11:c.976G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312618.7:p.Ala326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 951,
          "referenceAllele": "G",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000505192.5:c.*672G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426277.1:n.*672G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000505867.5:c.*776G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425346.1:n.*776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337547"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 265,
          "referenceAllele": "G",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000508971.1:c.265G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422683.1:p.Ala89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339853"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1221,
          "referenceAllele": "G",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000511227.5:c.*870G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425226.1:n.*870G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "ENST00000511526.5:n.481G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068388946",
      "coordinates": [
        {
          "allele": "G",
          "end": 1178,
          "referenceAllele": "G",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "NM_014049.4:c.976G="
      ],
      "proteinEffect": {
        "hgvs": "NP_054768.2:p.Ala326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1354,
          "referenceAllele": "G",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "NR_033426.1:n.1354G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "XM_011512742.1:c.607G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011511044.1:p.Ala203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "XR_427367.1:n.1052G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "XM_024453484.1:c.607G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024309252.1:p.Ala203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 960,
          "referenceAllele": "G",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "XM_024453485.1:c.607G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024309253.1:p.Ala203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "XR_427367.3:n.1052G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068388946",
      "coordinates": [
        {
          "allele": "G",
          "end": 1048,
          "referenceAllele": "G",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "NM_014049.5:c.976G="
      ],
      "proteinEffect": {
        "hgvs": "NP_054768.2:p.Ala326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668184",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308982.12:c.976G="
          },
          "RefSeq": {
            "hgvs": "NM_014049.5:c.976G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000312618.7:p.Ala326="
          },
          "RefSeq": {
            "hgvs": "NP_054768.2:p.Ala326="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1224,
          "referenceAllele": "G",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021497",
      "geneNCBI_id": 28976,
      "geneSymbol": "ACAD9",
      "hgvs": [
        "NR_033426.2:n.1224G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730293"
    }
  ],
  "type": "nucleotide"
}