{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377593232",
  "communityStandardTitle": [
    "NM_004523.4(KIF11):c.2018A>T (p.Lys673Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=980710[alleleid]",
        "alleleId": 980710,
        "preferredName": "NM_004523.4(KIF11):c.2018A>T (p.Lys673Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/992723",
        "RCV": [
          "RCV001281449",
          "RCV001366660"
        ],
        "variationId": 992723
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.94397160A>T?assembly=hg19",
        "id": "chr10:g.94397160A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.92637403A>T?assembly=hg38",
        "id": "chr10:g.92637403A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1235363221",
        "rs": 1235363221
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-94397160-A-T?dataset=gnomad_r2_1",
        "id": "10-94397160-A-T",
        "variant": "10:94397160 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-92637403-A-T?dataset=gnomad_r3",
        "id": "10-92637403-A-T",
        "variant": "10:92637403 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-92637403-A-T?dataset=gnomad_r4",
        "id": "10-92637403-A-T",
        "variant": "10:92637403 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 92637403,
          "referenceAllele": "A",
          "start": 92637402
        }
      ],
      "hgvs": [
        "NC_000010.11:g.92637403A>T",
        "CM000672.2:g.92637403A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 94397160,
          "referenceAllele": "A",
          "start": 94397159
        }
      ],
      "hgvs": [
        "NC_000010.10:g.94397160A>T",
        "CM000672.1:g.94397160A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 94387140,
          "referenceAllele": "A",
          "start": 94387139
        }
      ],
      "hgvs": [
        "NC_000010.9:g.94387140A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49336,
          "referenceAllele": "A",
          "start": 49335
        }
      ],
      "hgvs": [
        "NG_032580.1:g.49336A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005174"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2264,
          "referenceAllele": "A",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000260731.5:c.2018A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260731.3:p.Lys673Met",
        "hgvsWellDefined": "ENSP00000260731.3:p.Lys673Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742062",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260731.5:c.2018A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004523.4:c.2018A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260731.3:p.Lys673Met"
          },
          "RefSeq": {
            "hgvs": "NP_004514.2:p.Lys673Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2384,
          "referenceAllele": "A",
          "start": 2383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000676621.1:c.*536A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503639.1:n.*536A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "A",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000676647.1:c.1811A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503394.1:p.Lys604Met",
        "hgvsWellDefined": "ENSP00000503394.1:p.Lys604Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2030,
          "referenceAllele": "A",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000676757.1:c.1811A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504289.1:p.Lys604Met",
        "hgvsWellDefined": "ENSP00000504289.1:p.Lys604Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2260,
          "referenceAllele": "A",
          "start": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000677720.1:c.2014A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504840.1:p.Arg672Trp",
        "hgvsWellDefined": "ENSP00000504840.1:p.Arg672Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2108,
          "referenceAllele": "A",
          "start": 2107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000260731.4:c.2018A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260731.3:p.Lys673Met",
        "hgvsWellDefined": "ENSP00000260731.3:p.Lys673Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139708593",
      "coordinates": [
        {
          "allele": "T",
          "end": 2326,
          "referenceAllele": "A",
          "start": 2325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "NM_004523.3:c.2018A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004514.2:p.Lys673Met",
        "hgvsWellDefined": "NP_004514.2:p.Lys673Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029681"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139708593",
      "coordinates": [
        {
          "allele": "T",
          "end": 2264,
          "referenceAllele": "A",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "NM_004523.4:c.2018A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004514.2:p.Lys673Met",
        "hgvsWellDefined": "NP_004514.2:p.Lys673Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260731.5:c.2018A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004523.4:c.2018A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260731.3:p.Lys673Met"
          },
          "RefSeq": {
            "hgvs": "NP_004514.2:p.Lys673Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}