{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399482596",
  "communityStandardTitle": [
    "NM_000526.5(KRT14):c.353C>A (p.Thr118Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39742734G>T?assembly=hg19",
        "id": "chr17:g.39742734G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41586482G>T?assembly=hg38",
        "id": "chr17:g.41586482G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794983",
        "rs": 1064794983
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41586482-G-T?dataset=gnomad_r3",
        "id": "17-41586482-G-T",
        "variant": "17:41586482 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41586482-G-T?dataset=gnomad_r4",
        "id": "17-41586482-G-T",
        "variant": "17:41586482 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 41586482,
          "referenceAllele": "G",
          "start": 41586481
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41586482G>T",
        "CM000679.2:g.41586482G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39742734,
          "referenceAllele": "G",
          "start": 39742733
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39742734G>T",
        "CM000679.1:g.39742734G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 36996260,
          "referenceAllele": "G",
          "start": 36996259
        }
      ],
      "hgvs": [
        "NC_000017.9:g.36996260G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5414,
          "referenceAllele": "C",
          "start": 5413
        }
      ],
      "hgvs": [
        "NG_008624.1:g.5414C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006416",
      "geneNCBI_id": 3861,
      "geneSymbol": "KRT14",
      "hgvs": [
        "ENST00000167586.7:c.353C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000167586.6:p.Thr118Asn",
        "hgvsWellDefined": "ENSP00000167586.6:p.Thr118Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740062",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000167586.7:c.353C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000526.5:c.353C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000167586.6:p.Thr118Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000517.3:p.Thr118Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 440,
          "referenceAllele": "C",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006416",
      "geneNCBI_id": 3861,
      "geneSymbol": "KRT14",
      "hgvs": [
        "ENST00000167586.6:c.353C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000167586.6:p.Thr118Asn",
        "hgvsWellDefined": "ENSP00000167586.6:p.Thr118Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006416",
      "geneNCBI_id": 3861,
      "geneSymbol": "KRT14",
      "hgvs": [
        "NM_000526.4:c.353C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000517.2:p.Thr118Asn",
        "hgvsWellDefined": "NP_000517.2:p.Thr118Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084559254",
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006416",
      "geneNCBI_id": 3861,
      "geneSymbol": "KRT14",
      "hgvs": [
        "NM_000526.5:c.353C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000517.3:p.Thr118Asn",
        "hgvsWellDefined": "NP_000517.3:p.Thr118Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662472",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000167586.7:c.353C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000526.5:c.353C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000167586.6:p.Thr118Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000517.3:p.Thr118Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}