{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6652803",
  "communityStandardTitle": [
    "NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=399029[alleleid]",
        "alleleId": 399029,
        "preferredName": "NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409668",
        "RCV": [
          "RCV000458531",
          "RCV001114824",
          "RCV001289240",
          "RCV004551528"
        ],
        "variationId": 409668
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-57963916-C-T",
        "id": "12-57963916-C-T",
        "variant": "12:57963916 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57963916C>T?assembly=hg19",
        "id": "chr12:g.57963916C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57570133C>T?assembly=hg38",
        "id": "chr12:g.57570133C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748402153",
        "rs": 748402153
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57963916-C-T?dataset=gnomad_r2_1",
        "id": "12-57963916-C-T",
        "variant": "12:57963916 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57570133-C-T?dataset=gnomad_r3",
        "id": "12-57570133-C-T",
        "variant": "12:57570133 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57570133-C-T?dataset=gnomad_r4",
        "id": "12-57570133-C-T",
        "variant": "12:57570133 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 57570133,
          "referenceAllele": "C",
          "start": 57570132
        }
      ],
      "hgvs": [
        "NC_000012.12:g.57570133C>T",
        "CM000674.2:g.57570133C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 57963916,
          "referenceAllele": "C",
          "start": 57963915
        }
      ],
      "hgvs": [
        "NC_000012.11:g.57963916C>T",
        "CM000674.1:g.57963916C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 56250183,
          "referenceAllele": "C",
          "start": 56250182
        }
      ],
      "hgvs": [
        "NC_000012.10:g.56250183C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25070,
          "referenceAllele": "C",
          "start": 25069
        }
      ],
      "hgvs": [
        "NG_008155.1:g.25070C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000901"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000455537.7:c.1264C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408979.2:p.Arg422Cys",
        "hgvsWellDefined": "ENSP00000408979.2:p.Arg422Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756517",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000455537.7:c.1264C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004984.4:c.1264C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000408979.2:p.Arg422Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004975.2:p.Arg422Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1509,
          "referenceAllele": "C",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000674619.1:c.1264C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502270.1:p.Arg422Cys",
        "hgvsWellDefined": "ENSP00000502270.1:p.Arg422Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000675882.1:n.251C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000676081.1:n.410C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1326,
          "referenceAllele": "C",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000676457.1:c.1159C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501588.1:p.Arg387Cys",
        "hgvsWellDefined": "ENSP00000501588.1:p.Arg387Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000286452.5:c.997C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286452.5:p.Arg333Cys",
        "hgvsWellDefined": "ENSP00000286452.5:p.Arg333Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1538,
          "referenceAllele": "C",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "ENST00000455537.6:c.1264C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408979.2:p.Arg422Cys",
        "hgvsWellDefined": "ENSP00000408979.2:p.Arg422Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303093"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645472383",
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NM_004984.2:c.1264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004975.2:p.Arg422Cys",
        "hgvsWellDefined": "NP_004975.2:p.Arg422Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827924930",
      "coordinates": [
        {
          "allele": "T",
          "end": 1277,
          "referenceAllele": "C",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NM_001354705.1:c.997C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341634.1:p.Arg333Cys",
        "hgvsWellDefined": "NP_001341634.1:p.Arg333Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645472383",
      "coordinates": [
        {
          "allele": "T",
          "end": 1544,
          "referenceAllele": "C",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NM_004984.3:c.1264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004975.2:p.Arg422Cys",
        "hgvsWellDefined": "NP_004975.2:p.Arg422Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1497,
          "referenceAllele": "C",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "XR_002957324.1:n.1497C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645472383",
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NM_004984.4:c.1264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004975.2:p.Arg422Cys",
        "hgvsWellDefined": "NP_004975.2:p.Arg422Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000455537.7:c.1264C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004984.4:c.1264C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000408979.2:p.Arg422Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004975.2:p.Arg422Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827924930",
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NM_001354705.2:c.997C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341634.1:p.Arg333Cys",
        "hgvsWellDefined": "NP_001341634.1:p.Arg333Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690297"
    }
  ],
  "type": "nucleotide"
}