{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA138597",
  "communityStandardTitle": [
    "NM_057176.3(BSND):c.127G>A (p.Val43Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3773512"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55710[alleleid]",
        "alleleId": 55710,
        "preferredName": "NM_057176.3(BSND):c.127G>A (p.Val43Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46545",
        "RCV": [
          "RCV000039815",
          "RCV000288895",
          "RCV000710755",
          "RCV001273325"
        ],
        "variationId": 46545
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-55464986-G-A",
        "id": "1-55464986-G-A",
        "variant": "1:55464986 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.55464986G>A?assembly=hg19",
        "id": "chr1:g.55464986G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.54999313G>A?assembly=hg38",
        "id": "chr1:g.54999313G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34561376",
        "rs": 34561376
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-55464986-G-A?dataset=gnomad_r2_1",
        "id": "1-55464986-G-A",
        "variant": "1:55464986 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-54999313-G-A?dataset=gnomad_r3",
        "id": "1-54999313-G-A",
        "variant": "1:54999313 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-54999313-G-A?dataset=gnomad_r4",
        "id": "1-54999313-G-A",
        "variant": "1:54999313 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 54999313,
          "referenceAllele": "G",
          "start": 54999312
        }
      ],
      "hgvs": [
        "NC_000001.11:g.54999313G>A",
        "CM000663.2:g.54999313G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 55464986,
          "referenceAllele": "G",
          "start": 55464985
        }
      ],
      "hgvs": [
        "NC_000001.10:g.55464986G>A",
        "CM000663.1:g.55464986G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 55237574,
          "referenceAllele": "G",
          "start": 55237573
        }
      ],
      "hgvs": [
        "NC_000001.9:g.55237574G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5370,
          "referenceAllele": "G",
          "start": 5369
        }
      ],
      "hgvs": [
        "NG_008965.1:g.5370G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5381,
          "referenceAllele": "G",
          "start": 5380
        }
      ],
      "hgvs": [
        "NG_008965.2:g.5381G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616119"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016512",
      "geneNCBI_id": 7809,
      "geneSymbol": "BSND",
      "hgvs": [
        "ENST00000651561.1:c.127G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498282.1:p.Val43Ile",
        "hgvsWellDefined": "ENSP00000498282.1:p.Val43Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771737",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651561.1:c.127G>A"
          },
          "RefSeq": {
            "hgvs": "NM_057176.3:c.127G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498282.1:p.Val43Ile"
          },
          "RefSeq": {
            "hgvs": "NP_476517.1:p.Val43Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016512",
      "geneNCBI_id": 7809,
      "geneSymbol": "BSND",
      "hgvs": [
        "ENST00000371265.4:c.127G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360312.4:p.Val43Ile",
        "hgvsWellDefined": "ENSP00000360312.4:p.Val43Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA138598",
      "coordinates": [
        {
          "allele": "A",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016512",
      "geneNCBI_id": 7809,
      "geneSymbol": "BSND",
      "hgvs": [
        "NM_057176.2:c.127G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_476517.1:p.Val43Ile",
        "hgvsWellDefined": "NP_476517.1:p.Val43Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA138598",
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016512",
      "geneNCBI_id": 7809,
      "geneSymbol": "BSND",
      "hgvs": [
        "NM_057176.3:c.127G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_476517.1:p.Val43Ile",
        "hgvsWellDefined": "NP_476517.1:p.Val43Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526436",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651561.1:c.127G>A"
          },
          "RefSeq": {
            "hgvs": "NM_057176.3:c.127G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498282.1:p.Val43Ile"
          },
          "RefSeq": {
            "hgvs": "NP_476517.1:p.Val43Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}