{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2620690",
  "communityStandardTitle": [
    "NM_016557.4(ACKR4):c.841A>G (p.Met281Val)",
    "NM_032169.5(ACAD11):c.1621+1991T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2219007[alleleid]",
        "alleleId": 2219007,
        "preferredName": "NM_016557.4(ACKR4):c.841A>G (p.Met281Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2226977",
        "RCV": [
          "RCV004087183"
        ],
        "variationId": 2226977
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-132320082-A-G",
        "id": "3-132320082-A-G",
        "variant": "3:132320082 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.132320082A>G?assembly=hg19",
        "id": "chr3:g.132320082A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.132601238A>G?assembly=hg38",
        "id": "chr3:g.132601238A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368529492",
        "rs": 368529492
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-132320082-A-G?dataset=gnomad_r2_1",
        "id": "3-132320082-A-G",
        "variant": "3:132320082 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-132601238-A-G?dataset=gnomad_r3",
        "id": "3-132601238-A-G",
        "variant": "3:132601238 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-132601238-A-G?dataset=gnomad_r4",
        "id": "3-132601238-A-G",
        "variant": "3:132601238 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 132601238,
          "referenceAllele": "A",
          "start": 132601237
        }
      ],
      "hgvs": [
        "NC_000003.12:g.132601238A>G",
        "CM000665.2:g.132601238A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 132320082,
          "referenceAllele": "A",
          "start": 132320081
        }
      ],
      "hgvs": [
        "NC_000003.11:g.132320082A>G",
        "CM000665.1:g.132320082A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 133802772,
          "referenceAllele": "A",
          "start": 133802771
        }
      ],
      "hgvs": [
        "NC_000003.10:g.133802772A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 63894,
          "referenceAllele": "T",
          "start": 63893
        }
      ],
      "hgvs": [
        "NG_042830.1:g.63894T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006032"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "referenceAllele": "A",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001611",
      "geneNCBI_id": 51554,
      "geneSymbol": "ACKR4",
      "hgvs": [
        "ENST00000249887.3:c.841A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249887.2:p.Met281Val",
        "hgvsWellDefined": "ENSP00000249887.2:p.Met281Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741421",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249887.3:c.841A>G"
          },
          "RefSeq": {
            "hgvs": "NM_016557.4:c.841A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249887.2:p.Met281Val"
          },
          "RefSeq": {
            "hgvs": "NP_057641.1:p.Met281Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 1679,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "ENST00000264990.11:c.1621+1991T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264990.6:n.1621+1991T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742759",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264990.11:c.1621+1991T>C"
          },
          "RefSeq": {
            "hgvs": "NM_032169.5:c.1621+1991T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264990.6:n.1621+1991T>C"
          },
          "RefSeq": {
            "hgvs": "NP_115545.3:n.1621+1991T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 937,
          "referenceAllele": "A",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001611",
      "geneNCBI_id": 51554,
      "geneSymbol": "ACKR4",
      "hgvs": [
        "ENST00000249887.2:c.841A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249887.2:p.Met281Val",
        "hgvsWellDefined": "ENSP00000249887.2:p.Met281Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2593,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 2593,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "ENST00000264990.10:c.1621+1991T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264990.6:n.1621+1991T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251637"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1952,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 1952,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "ENST00000469042.5:n.1952+1991T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311816"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5623,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 5623,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048351",
      "geneNCBI_id": 100532724,
      "geneSymbol": "NPHP3-ACAD11",
      "hgvs": [
        "ENST00000471702.2:c.*3608+1991T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419763.1:n.*3608+1991T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "ENST00000477604.5:n.165+1991T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318380"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1719,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 1719,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "ENST00000485198.5:c.*102+1991T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419973.1:n.*102+1991T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324289"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 808,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "ENST00000487024.1:n.808+1991T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1519,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 1519,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "ENST00000496418.5:n.1519+1991T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 452,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 452,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "ENST00000507705.5:n.452+1991T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 295,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 295,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "ENST00000510100.1:c.295+1991T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423796.1:n.295+1991T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829843448",
      "coordinates": [
        {
          "allele": "G",
          "end": 937,
          "referenceAllele": "A",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001611",
      "geneNCBI_id": 51554,
      "geneSymbol": "ACKR4",
      "hgvs": [
        "NM_016557.3:c.841A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057641.1:p.Met281Val",
        "hgvsWellDefined": "NP_057641.1:p.Met281Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2001,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 2001,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "NM_032169.4:c.1621+1991T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115545.3:n.1621+1991T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580540776",
      "coordinates": [
        {
          "allele": "G",
          "end": 1102,
          "referenceAllele": "A",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001611",
      "geneNCBI_id": 51554,
      "geneSymbol": "ACKR4",
      "hgvs": [
        "NM_178445.2:c.841A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_848540.1:p.Met281Val",
        "hgvsWellDefined": "NP_848540.1:p.Met281Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5623,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 5623,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048351",
      "geneNCBI_id": 100532724,
      "geneSymbol": "NPHP3-ACAD11",
      "hgvs": [
        "NR_037804.1:n.5623+1991T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2001,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 2001,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "NR_132426.1:n.2001+1991T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2001,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 2001,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "NR_132427.1:n.2001+1991T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1784,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 1784,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "NR_132428.1:n.1784+1991T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 1679,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "NM_032169.5:c.1621+1991T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115545.3:n.1621+1991T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671214",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264990.11:c.1621+1991T>C"
          },
          "RefSeq": {
            "hgvs": "NM_032169.5:c.1621+1991T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264990.6:n.1621+1991T>C"
          },
          "RefSeq": {
            "hgvs": "NP_115545.3:n.1621+1991T>C"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829843448",
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "referenceAllele": "A",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001611",
      "geneNCBI_id": 51554,
      "geneSymbol": "ACKR4",
      "hgvs": [
        "NM_016557.4:c.841A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057641.1:p.Met281Val",
        "hgvsWellDefined": "NP_057641.1:p.Met281Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249887.3:c.841A>G"
          },
          "RefSeq": {
            "hgvs": "NM_016557.4:c.841A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249887.2:p.Met281Val"
          },
          "RefSeq": {
            "hgvs": "NP_057641.1:p.Met281Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 1679,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "NR_132426.2:n.1679+1991T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 1679,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "NR_132427.2:n.1679+1991T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730821"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1462,
          "endIntronDirection": "+",
          "endIntronOffset": 1991,
          "referenceAllele": "T",
          "start": 1462,
          "startIntronDirection": "+",
          "startIntronOffset": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030211",
      "geneNCBI_id": 84129,
      "geneSymbol": "ACAD11",
      "hgvs": [
        "NR_132428.2:n.1462+1991T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730822"
    }
  ],
  "type": "nucleotide"
}