{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16613836",
  "communityStandardTitle": [
    "NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1363363",
        "active": true,
        "id": "COSM1363363"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=399176[alleleid]",
        "alleleId": 399176,
        "preferredName": "NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409666",
        "RCV": [
          "RCV000464334",
          "RCV000713413",
          "RCV001391463",
          "RCV001848809"
        ],
        "variationId": 409666
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57963186C>T?assembly=hg19",
        "id": "chr12:g.57963186C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57569403C>T?assembly=hg38",
        "id": "chr12:g.57569403C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1012819766",
        "rs": 1012819766
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57963186-C-T?dataset=gnomad_r2_1",
        "id": "12-57963186-C-T",
        "variant": "12:57963186 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57569403-C-T?dataset=gnomad_r3",
        "id": "12-57569403-C-T",
        "variant": "12:57569403 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57569403-C-T?dataset=gnomad_r4",
        "id": "12-57569403-C-T",
        "variant": "12:57569403 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 57569403,
          "referenceAllele": "C",
          "start": 57569402
        }
      ],
      "hgvs": [
        "NC_000012.12:g.57569403C>T",
        "CM000674.2:g.57569403C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 57963186,
          "referenceAllele": "C",
          "start": 57963185
        }
      ],
      "hgvs": [
        "NC_000012.11:g.57963186C>T",
        "CM000674.1:g.57963186C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 56249453,
          "referenceAllele": "C",
          "start": 56249452
        }
      ],
      "hgvs": [
        "NC_000012.10:g.56249453C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24340,
          "referenceAllele": "C",
          "start": 24339
        }
      ],
      "hgvs": [
        "NG_008155.1:g.24340C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000901"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000455537.7:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408979.2:p.Arg323Trp",
        "hgvsWellDefined": "ENSP00000408979.2:p.Arg323Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756517",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000455537.7:c.967C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004984.4:c.967C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000408979.2:p.Arg323Trp"
          },
          "RefSeq": {
            "hgvs": "NP_004975.2:p.Arg323Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1212,
          "referenceAllele": "C",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000674619.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502270.1:p.Arg323Trp",
        "hgvsWellDefined": "ENSP00000502270.1:p.Arg323Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113,
          "referenceAllele": "C",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000676081.1:n.113C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1029,
          "referenceAllele": "C",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000676457.1:c.862C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501588.1:p.Arg288Trp",
        "hgvsWellDefined": "ENSP00000501588.1:p.Arg288Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 928,
          "referenceAllele": "C",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000286452.5:c.700C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286452.5:p.Arg234Trp",
        "hgvsWellDefined": "ENSP00000286452.5:p.Arg234Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1241,
          "referenceAllele": "C",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000455537.6:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408979.2:p.Arg323Trp",
        "hgvsWellDefined": "ENSP00000408979.2:p.Arg323Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303093"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645472375",
      "coordinates": [
        {
          "allele": "T",
          "end": 1175,
          "referenceAllele": "C",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NM_004984.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004975.2:p.Arg323Trp",
        "hgvsWellDefined": "NP_004975.2:p.Arg323Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827924838",
      "coordinates": [
        {
          "allele": "T",
          "end": 980,
          "referenceAllele": "C",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NM_001354705.1:c.700C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341634.1:p.Arg234Trp",
        "hgvsWellDefined": "NP_001341634.1:p.Arg234Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645472375",
      "coordinates": [
        {
          "allele": "T",
          "end": 1247,
          "referenceAllele": "C",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NM_004984.3:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004975.2:p.Arg323Trp",
        "hgvsWellDefined": "NP_004975.2:p.Arg323Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1200,
          "referenceAllele": "C",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "XR_002957324.1:n.1200C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645472375",
      "coordinates": [
        {
          "allele": "T",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NM_004984.4:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004975.2:p.Arg323Trp",
        "hgvsWellDefined": "NP_004975.2:p.Arg323Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000455537.7:c.967C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004984.4:c.967C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000408979.2:p.Arg323Trp"
          },
          "RefSeq": {
            "hgvs": "NP_004975.2:p.Arg323Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827924838",
      "coordinates": [
        {
          "allele": "T",
          "end": 928,
          "referenceAllele": "C",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NM_001354705.2:c.700C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341634.1:p.Arg234Trp",
        "hgvsWellDefined": "NP_001341634.1:p.Arg234Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690297"
    }
  ],
  "type": "nucleotide"
}