{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9924308",
  "communityStandardTitle": [
    "NM_004738.5(VAPB):c.574-4G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=350190[alleleid]",
        "alleleId": 350190,
        "preferredName": "NM_004738.5(VAPB):c.574-4G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/338932",
        "RCV": [
          "RCV000299440",
          "RCV001564242",
          "RCV002348093",
          "RCV003922478",
          "RCV000356646",
          "RCV002254548"
        ],
        "variationId": 338932
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-57019129-G-A",
        "id": "20-57019129-G-A",
        "variant": "20:57019129 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.57019129G>A?assembly=hg19",
        "id": "chr20:g.57019129G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.58444073G>A?assembly=hg38",
        "id": "chr20:g.58444073G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201798741",
        "rs": 201798741
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-57019129-G-A?dataset=gnomad_r2_1",
        "id": "20-57019129-G-A",
        "variant": "20:57019129 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-58444073-G-A?dataset=gnomad_r3",
        "id": "20-58444073-G-A",
        "variant": "20:58444073 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-58444073-G-A?dataset=gnomad_r4",
        "id": "20-58444073-G-A",
        "variant": "20:58444073 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 58444073,
          "referenceAllele": "G",
          "start": 58444072
        }
      ],
      "hgvs": [
        "NC_000020.11:g.58444073G>A",
        "CM000682.2:g.58444073G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 57019129,
          "referenceAllele": "G",
          "start": 57019128
        }
      ],
      "hgvs": [
        "NC_000020.10:g.57019129G>A",
        "CM000682.1:g.57019129G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 56452535,
          "referenceAllele": "G",
          "start": 56452534
        }
      ],
      "hgvs": [
        "NC_000020.9:g.56452535G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59885,
          "referenceAllele": "G",
          "start": 59884
        }
      ],
      "hgvs": [
        "NG_008073.2:g.59885G>A",
        "LRG_656:g.59885G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000818"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 804,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 804,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000475243.6:c.574-4G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417175.1:n.574-4G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757143",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000475243.6:c.574-4G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004738.5:c.574-4G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417175.1:n.574-4G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004729.1:n.574-4G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 767,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 767,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000265619.6:n.768-4G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS251782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 358,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000395802.7:c.212-4G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379147.3:n.212-4G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276914"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 917,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000463370.5:n.918-4G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 911,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000475243.5:c.574-4G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417175.1:n.574-4G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2107,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 2107,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000476395.1:n.2108-4G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 482,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000520497.1:c.*173-4G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430426.1:n.*173-4G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 552,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_001195677.1:c.212-4G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182606.1:n.212-4G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 914,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_004738.4:c.574-4G>A",
        "LRG_656t1:c.574-4G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004729.1:n.574-4G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 729,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NR_036633.1:n.730-4G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 442,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_001195677.2:c.212-4G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182606.1:n.212-4G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 804,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 804,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_004738.5:c.574-4G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004729.1:n.574-4G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696224",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000475243.6:c.574-4G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004738.5:c.574-4G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417175.1:n.574-4G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004729.1:n.574-4G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 619,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NR_036633.2:n.620-4G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702227"
    }
  ],
  "type": "nucleotide"
}