{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119163",
  "communityStandardTitle": [
    "NM_000223.4(KRT12):c.386T>C (p.Met129Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22966[alleleid]",
        "alleleId": 22966,
        "preferredName": "NM_000223.4(KRT12):c.386T>C (p.Met129Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7927",
        "RCV": [
          "RCV000008389",
          "RCV000056417"
        ],
        "variationId": 7927
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39023053A>G?assembly=hg19",
        "id": "chr17:g.39023053A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.40866801A>G?assembly=hg38",
        "id": "chr17:g.40866801A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28936695",
        "rs": 28936695
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 40866801,
          "referenceAllele": "A",
          "start": 40866800
        }
      ],
      "hgvs": [
        "NC_000017.11:g.40866801A>G",
        "CM000679.2:g.40866801A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 39023053,
          "referenceAllele": "A",
          "start": 39023052
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39023053A>G",
        "CM000679.1:g.39023053A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 36276579,
          "referenceAllele": "A",
          "start": 36276578
        }
      ],
      "hgvs": [
        "NC_000017.9:g.36276579A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5410,
          "referenceAllele": "T",
          "start": 5409
        }
      ],
      "hgvs": [
        "NG_008077.1:g.5410T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000822"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "referenceAllele": "T",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006414",
      "geneNCBI_id": 3859,
      "geneSymbol": "KRT12",
      "hgvs": [
        "ENST00000251643.5:c.386T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251643.4:p.Met129Thr",
        "hgvsWellDefined": "ENSP00000251643.4:p.Met129Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741491",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251643.5:c.386T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000223.4:c.386T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251643.4:p.Met129Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000214.1:p.Met129Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 292,
          "referenceAllele": "T",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006414",
      "geneNCBI_id": 3859,
      "geneSymbol": "KRT12",
      "hgvs": [
        "ENST00000647902.1:c.278T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497770.1:p.Met93Thr",
        "hgvsWellDefined": "ENSP00000497770.1:p.Met93Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 410,
          "referenceAllele": "T",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006414",
      "geneNCBI_id": 3859,
      "geneSymbol": "KRT12",
      "hgvs": [
        "ENST00000251643.4:c.386T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251643.4:p.Met129Thr",
        "hgvsWellDefined": "ENSP00000251643.4:p.Met129Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249755"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112169",
      "coordinates": [
        {
          "allele": "C",
          "end": 410,
          "referenceAllele": "T",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006414",
      "geneNCBI_id": 3859,
      "geneSymbol": "KRT12",
      "hgvs": [
        "NM_000223.3:c.386T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000214.1:p.Met129Thr",
        "hgvsWellDefined": "NP_000214.1:p.Met129Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006287"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1500,
          "endIntronDirection": "+",
          "endIntronOffset": 15941,
          "referenceAllele": "A",
          "start": 1500,
          "startIntronDirection": "+",
          "startIntronOffset": 15940
        }
      ],
      "hgvs": [
        "XR_934754.1:n.1500+15941A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2008,
          "endIntronDirection": "+",
          "endIntronOffset": 15941,
          "referenceAllele": "A",
          "start": 2008,
          "startIntronDirection": "+",
          "startIntronOffset": 15940
        }
      ],
      "hgvs": [
        "XR_934754.2:n.2008+15941A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112169",
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "referenceAllele": "T",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006414",
      "geneNCBI_id": 3859,
      "geneSymbol": "KRT12",
      "hgvs": [
        "NM_000223.4:c.386T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000214.1:p.Met129Thr",
        "hgvsWellDefined": "NP_000214.1:p.Met129Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674752",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251643.5:c.386T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000223.4:c.386T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251643.4:p.Met129Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000214.1:p.Met129Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}