{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA216773",
  "communityStandardTitle": [
    "NM_000424.4(KRT5):c.579C>G (p.Asn193Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29683[alleleid]",
        "alleleId": 29683,
        "preferredName": "NM_000424.4(KRT5):c.579C>G (p.Asn193Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14644",
        "RCV": [
          "RCV000056632",
          "RCV001352776",
          "RCV001731295"
        ],
        "variationId": 14644
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52912921G>C?assembly=hg19",
        "id": "chr12:g.52912921G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52519137G>C?assembly=hg38",
        "id": "chr12:g.52519137G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/60586163",
        "rs": 60586163
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 52519137,
          "referenceAllele": "G",
          "start": 52519136
        }
      ],
      "hgvs": [
        "NC_000012.12:g.52519137G>C",
        "CM000674.2:g.52519137G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 52912921,
          "referenceAllele": "G",
          "start": 52912920
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52912921G>C",
        "CM000674.1:g.52912921G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 51199188,
          "referenceAllele": "G",
          "start": 51199187
        }
      ],
      "hgvs": [
        "NC_000012.10:g.51199188G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6323,
          "referenceAllele": "C",
          "start": 6322
        }
      ],
      "hgvs": [
        "NG_008297.1:g.6323C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001010"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000252242.9:c.579C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252242.4:p.Asn193Lys",
        "hgvsWellDefined": "ENSP00000252242.4:p.Asn193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741522",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252242.9:c.579C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000424.4:c.579C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252242.4:p.Asn193Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000415.2:p.Asn193Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000252242.8:c.579C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252242.4:p.Asn193Lys",
        "hgvsWellDefined": "ENSP00000252242.4:p.Asn193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000549420.1:c.249C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447209.1:p.Asn83Lys",
        "hgvsWellDefined": "ENSP00000447209.1:p.Asn83Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 107,
          "referenceAllele": "C",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000551013.1:n.107C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368407"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000552629.5:n.677C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106159",
      "coordinates": [
        {
          "allele": "G",
          "end": 742,
          "referenceAllele": "C",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "NM_000424.3:c.579C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000415.2:p.Asn193Lys",
        "hgvsWellDefined": "NP_000415.2:p.Asn193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106159",
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "NM_000424.4:c.579C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000415.2:p.Asn193Lys",
        "hgvsWellDefined": "NP_000415.2:p.Asn193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662436",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252242.9:c.579C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000424.4:c.579C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252242.4:p.Asn193Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000415.2:p.Asn193Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}