{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9758346",
  "communityStandardTitle": [
    "NM_017671.5(FERMT1):c.834C>T (p.Phe278=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5392518",
        "active": true,
        "id": "COSM5392518"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5392519",
        "active": true,
        "id": "COSM5392519"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=350332[alleleid]",
        "alleleId": 350332,
        "preferredName": "NM_017671.5(FERMT1):c.834C>T (p.Phe278=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/339222",
        "RCV": [
          "RCV000281098",
          "RCV002057747"
        ],
        "variationId": 339222
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-6088194-G-A",
        "id": "20-6088194-G-A",
        "variant": "20:6088194 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.6088194G>A?assembly=hg19",
        "id": "chr20:g.6088194G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.6107547G>A?assembly=hg38",
        "id": "chr20:g.6107547G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/775613961",
        "rs": 775613961
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-6088194-G-A?dataset=gnomad_r2_1",
        "id": "20-6088194-G-A",
        "variant": "20:6088194 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-6107547-G-A?dataset=gnomad_r3",
        "id": "20-6107547-G-A",
        "variant": "20:6107547 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-6107547-G-A?dataset=gnomad_r4",
        "id": "20-6107547-G-A",
        "variant": "20:6107547 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 6107547,
          "referenceAllele": "G",
          "start": 6107546
        }
      ],
      "hgvs": [
        "NC_000020.11:g.6107547G>A",
        "CM000682.2:g.6107547G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 6088194,
          "referenceAllele": "G",
          "start": 6088193
        }
      ],
      "hgvs": [
        "NC_000020.10:g.6088194G>A",
        "CM000682.1:g.6088194G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 6036194,
          "referenceAllele": "G",
          "start": 6036193
        }
      ],
      "hgvs": [
        "NC_000020.9:g.6036194G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20998,
          "referenceAllele": "C",
          "start": 20997
        }
      ],
      "hgvs": [
        "NG_016213.1:g.20998C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003018"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4353,
          "referenceAllele": "C",
          "start": 4352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000699095.1:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514127.1:p.Phe278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1296,
          "referenceAllele": "C",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000699096.1:n.1296C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4,
          "referenceAllele": "C",
          "start": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000699097.1:n.4C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000699098.1:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514312.1:p.Phe278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000217289.9:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217289.4:p.Phe278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740361",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217289.9:c.834C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017671.5:c.834C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217289.4:p.Phe278="
          },
          "RefSeq": {
            "hgvs": "NP_060141.3:p.Phe278="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1623,
          "referenceAllele": "C",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000217289.8:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217289.4:p.Phe278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000536936.1:c.63C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441063.1:p.Phe21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360511"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829869786",
      "coordinates": [
        {
          "allele": "T",
          "end": 1623,
          "referenceAllele": "C",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "NM_017671.4:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060141.3:p.Phe278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1691,
          "referenceAllele": "C",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "XM_024451935.1:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307703.1:p.Phe278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829869786",
      "coordinates": [
        {
          "allele": "T",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "NM_017671.5:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060141.3:p.Phe278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217289.9:c.834C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017671.5:c.834C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217289.4:p.Phe278="
          },
          "RefSeq": {
            "hgvs": "NP_060141.3:p.Phe278="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}