{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2244674541",
  "communityStandardTitle": [
    "NM_006612.6(KIF1C):c.505C= (p.Arg169=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777198",
        "rs": 587777198
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 5002539,
          "referenceAllele": "C",
          "start": 5002538
        }
      ],
      "hgvs": [
        "NC_000017.11:g.5002539C=",
        "CM000679.2:g.5002539C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 4905834,
          "referenceAllele": "C",
          "start": 4905833
        }
      ],
      "hgvs": [
        "NC_000017.10:g.4905834C=",
        "CM000679.1:g.4905834C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 4846558,
          "referenceAllele": "C",
          "start": 4846557
        }
      ],
      "hgvs": [
        "NC_000017.9:g.4846558C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9592,
          "referenceAllele": "C",
          "start": 9591
        }
      ],
      "hgvs": [
        "NG_034137.1:g.9592C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005767"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 860,
          "referenceAllele": "C",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006317",
      "geneNCBI_id": 10749,
      "geneSymbol": "KIF1C",
      "hgvs": [
        "ENST00000320785.10:c.505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320821.5:p.Arg169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746380",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320785.10:c.505C="
          },
          "RefSeq": {
            "hgvs": "NM_006612.6:c.505C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320821.5:p.Arg169="
          },
          "RefSeq": {
            "hgvs": "NP_006603.2:p.Arg169="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 862,
          "referenceAllele": "C",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006317",
      "geneNCBI_id": 10749,
      "geneSymbol": "KIF1C",
      "hgvs": [
        "ENST00000320785.9:c.505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320821.5:p.Arg169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084140653",
      "coordinates": [
        {
          "allele": "C",
          "end": 862,
          "referenceAllele": "C",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006317",
      "geneNCBI_id": 10749,
      "geneSymbol": "KIF1C",
      "hgvs": [
        "NM_006612.5:c.505C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006603.2:p.Arg169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006317",
      "geneNCBI_id": 10749,
      "geneSymbol": "KIF1C",
      "hgvs": [
        "XM_005256424.1:c.505C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005256481.1:p.Arg169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006317",
      "geneNCBI_id": 10749,
      "geneSymbol": "KIF1C",
      "hgvs": [
        "XM_005256424.2:c.505C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005256481.1:p.Arg169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12,
          "endIntronDirection": "+",
          "endIntronOffset": 3543,
          "referenceAllele": "G",
          "start": 12,
          "startIntronDirection": "+",
          "startIntronOffset": 3542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032224",
      "geneNCBI_id": 388324,
      "geneSymbol": "INCA1",
      "hgvs": [
        "XM_024450745.1:c.-39+3543G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306513.1:n.-39+3543G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084140653",
      "coordinates": [
        {
          "allele": "C",
          "end": 860,
          "referenceAllele": "C",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006317",
      "geneNCBI_id": 10749,
      "geneSymbol": "KIF1C",
      "hgvs": [
        "NM_006612.6:c.505C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006603.2:p.Arg169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667543",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320785.10:c.505C="
          },
          "RefSeq": {
            "hgvs": "NM_006612.6:c.505C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320821.5:p.Arg169="
          },
          "RefSeq": {
            "hgvs": "NP_006603.2:p.Arg169="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}