{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9154761",
  "communityStandardTitle": [
    "NM_016579.4(CD320):c.337G>A (p.Val113Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2124774[alleleid]",
        "alleleId": 2124774,
        "preferredName": "NM_016579.4(CD320):c.337G>A (p.Val113Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2064661",
        "RCV": [
          "RCV002953592"
        ],
        "variationId": 2064661
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-8368904-C-T",
        "id": "19-8368904-C-T",
        "variant": "19:8368904 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.8368904C>T?assembly=hg19",
        "id": "chr19:g.8368904C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.8304020C>T?assembly=hg38",
        "id": "chr19:g.8304020C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/760524953",
        "rs": 760524953
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-8368904-C-T?dataset=gnomad_r2_1",
        "id": "19-8368904-C-T",
        "variant": "19:8368904 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-8304020-C-T?dataset=gnomad_r3",
        "id": "19-8304020-C-T",
        "variant": "19:8304020 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-8304020-C-T?dataset=gnomad_r4",
        "id": "19-8304020-C-T",
        "variant": "19:8304020 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 8304020,
          "referenceAllele": "C",
          "start": 8304019
        }
      ],
      "hgvs": [
        "NC_000019.10:g.8304020C>T",
        "CM000681.2:g.8304020C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 8368904,
          "referenceAllele": "C",
          "start": 8368903
        }
      ],
      "hgvs": [
        "NC_000019.9:g.8368904C>T",
        "CM000681.1:g.8368904C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 8274904,
          "referenceAllele": "C",
          "start": 8274903
        }
      ],
      "hgvs": [
        "NC_000019.8:g.8274904C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9337,
          "referenceAllele": "G",
          "start": 9336
        }
      ],
      "hgvs": [
        "NG_028124.1:g.9337G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004085"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 405,
          "referenceAllele": "G",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016692",
      "geneNCBI_id": 51293,
      "geneSymbol": "CD320",
      "hgvs": [
        "ENST00000301458.10:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301458.4:p.Val113Ile",
        "hgvsWellDefined": "ENSP00000301458.4:p.Val113Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744848",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301458.10:c.337G>A"
          },
          "RefSeq": {
            "hgvs": "NM_016579.4:c.337G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301458.4:p.Val113Ile"
          },
          "RefSeq": {
            "hgvs": "NP_057663.1:p.Val113Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016692",
      "geneNCBI_id": 51293,
      "geneSymbol": "CD320",
      "hgvs": [
        "ENST00000301458.9:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301458.4:p.Val113Ile",
        "hgvsWellDefined": "ENSP00000301458.4:p.Val113Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36,
          "endIntronDirection": "-",
          "endIntronOffset": 42015,
          "referenceAllele": "G",
          "start": 36,
          "startIntronDirection": "-",
          "startIntronOffset": 42016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003312",
      "geneNCBI_id": 1994,
      "geneSymbol": "ELAVL1",
      "hgvs": [
        "ENST00000351593.9:c.-87-42016G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264073.6:n.-87-42016G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262789"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 271,
          "referenceAllele": "G",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016692",
      "geneNCBI_id": 51293,
      "geneSymbol": "CD320",
      "hgvs": [
        "ENST00000537716.6:c.211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437697.1:p.Val71Ile",
        "hgvsWellDefined": "ENSP00000437697.1:p.Val71Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "endIntronDirection": "-",
          "endIntronOffset": 46,
          "referenceAllele": "G",
          "start": 927,
          "startIntronDirection": "-",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016692",
      "geneNCBI_id": 51293,
      "geneSymbol": "CD320",
      "hgvs": [
        "ENST00000596002.5:c.*672-47G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471773.1:n.*672-47G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 249,
          "endIntronDirection": "-",
          "endIntronOffset": 46,
          "referenceAllele": "G",
          "start": 249,
          "startIntronDirection": "-",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016692",
      "geneNCBI_id": 51293,
      "geneSymbol": "CD320",
      "hgvs": [
        "ENST00000599573.1:c.250-47G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580151581",
      "coordinates": [
        {
          "allele": "A",
          "end": 277,
          "referenceAllele": "G",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016692",
      "geneNCBI_id": 51293,
      "geneSymbol": "CD320",
      "hgvs": [
        "NM_001165895.1:c.211G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159367.1:p.Val71Ile",
        "hgvsWellDefined": "NP_001159367.1:p.Val71Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829844941",
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "G",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016692",
      "geneNCBI_id": 51293,
      "geneSymbol": "CD320",
      "hgvs": [
        "NM_016579.3:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057663.1:p.Val113Ile",
        "hgvsWellDefined": "NP_057663.1:p.Val113Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829844941",
      "coordinates": [
        {
          "allele": "A",
          "end": 405,
          "referenceAllele": "G",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016692",
      "geneNCBI_id": 51293,
      "geneSymbol": "CD320",
      "hgvs": [
        "NM_016579.4:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057663.1:p.Val113Ile",
        "hgvsWellDefined": "NP_057663.1:p.Val113Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301458.10:c.337G>A"
          },
          "RefSeq": {
            "hgvs": "NM_016579.4:c.337G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301458.4:p.Val113Ile"
          },
          "RefSeq": {
            "hgvs": "NP_057663.1:p.Val113Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580151581",
      "coordinates": [
        {
          "allele": "A",
          "end": 279,
          "referenceAllele": "G",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016692",
      "geneNCBI_id": 51293,
      "geneSymbol": "CD320",
      "hgvs": [
        "NM_001165895.2:c.211G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159367.1:p.Val71Ile",
        "hgvsWellDefined": "NP_001159367.1:p.Val71Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678427"
    }
  ],
  "type": "nucleotide"
}