{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399512569",
  "communityStandardTitle": [
    "NM_000422.3(KRT17):c.264G>C (p.Met88Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39780498C>G?assembly=hg19",
        "id": "chr17:g.39780498C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41624246C>G?assembly=hg38",
        "id": "chr17:g.41624246C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41624246,
          "referenceAllele": "C",
          "start": 41624245
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41624246C>G",
        "CM000679.2:g.41624246C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 39780498,
          "referenceAllele": "C",
          "start": 39780497
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39780498C>G",
        "CM000679.1:g.39780498C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 37034024,
          "referenceAllele": "C",
          "start": 37034023
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37034024C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5385,
          "referenceAllele": "G",
          "start": 5384
        }
      ],
      "hgvs": [
        "NG_008625.1:g.5385G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 167467,
          "referenceAllele": "G",
          "start": 167466
        }
      ],
      "hgvs": [
        "NG_009090.2:g.167467G>C",
        "LRG_401:g.167467G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "ENST00000311208.13:c.264G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308452.8:p.Met88Ile",
        "hgvsWellDefined": "ENSP00000308452.8:p.Met88Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745699",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311208.13:c.264G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000422.3:c.264G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308452.8:p.Met88Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000413.1:p.Met88Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 332,
          "referenceAllele": "G",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "ENST00000311208.12:c.264G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308452.8:p.Met88Ile",
        "hgvsWellDefined": "ENSP00000308452.8:p.Met88Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 100,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 100,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "ENST00000463128.5:c.-312-40G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468672.1:n.-312-40G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "ENST00000491673.1:n.330G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 51,
          "referenceAllele": "G",
          "start": 50
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "ENST00000493253.5:n.51G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 296,
          "referenceAllele": "G",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "ENST00000540235.5:c.59G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441751.2:p.Cys20Ser",
        "hgvsWellDefined": "ENSP00000441751.2:p.Cys20Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "ENST00000577817.3:c.219G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467418.1:p.Met73Ile",
        "hgvsWellDefined": "ENSP00000467418.1:p.Met73Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084609413",
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "NM_000422.2:c.264G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000413.1:p.Met88Ile",
        "hgvsWellDefined": "NP_000413.1:p.Met88Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084609413",
      "coordinates": [
        {
          "allele": "C",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "NM_000422.3:c.264G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000413.1:p.Met88Ile",
        "hgvsWellDefined": "NP_000413.1:p.Met88Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662434",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311208.13:c.264G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000422.3:c.264G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308452.8:p.Met88Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000413.1:p.Met88Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}