{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384928867",
  "communityStandardTitle": [
    "NM_000424.4(KRT5):c.519G>T (p.Lys173Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52913562C>A?assembly=hg19",
        "id": "chr12:g.52913562C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52519778C>A?assembly=hg38",
        "id": "chr12:g.52519778C>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 52519778,
          "referenceAllele": "C",
          "start": 52519777
        }
      ],
      "hgvs": [
        "NC_000012.12:g.52519778C>A",
        "CM000674.2:g.52519778C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 52913562,
          "referenceAllele": "C",
          "start": 52913561
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52913562C>A",
        "CM000674.1:g.52913562C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 51199829,
          "referenceAllele": "C",
          "start": 51199828
        }
      ],
      "hgvs": [
        "NC_000012.10:g.51199829C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5682,
          "referenceAllele": "G",
          "start": 5681
        }
      ],
      "hgvs": [
        "NG_008297.1:g.5682G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001010"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000252242.9:c.519G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252242.4:p.Lys173Asn",
        "hgvsWellDefined": "ENSP00000252242.4:p.Lys173Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741522",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252242.9:c.519G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000424.4:c.519G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252242.4:p.Lys173Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000415.2:p.Lys173Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "G",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000252242.8:c.519G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252242.4:p.Lys173Asn",
        "hgvsWellDefined": "ENSP00000252242.4:p.Lys173Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 264,
          "referenceAllele": "G",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000549420.1:c.189G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447209.1:p.Lys63Asn",
        "hgvsWellDefined": "ENSP00000447209.1:p.Lys63Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "G",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000551275.1:c.414G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448041.1:p.Lys138Asn",
        "hgvsWellDefined": "ENSP00000448041.1:p.Lys138Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000552629.5:n.617G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106405",
      "coordinates": [
        {
          "allele": "T",
          "end": 682,
          "referenceAllele": "G",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "NM_000424.3:c.519G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000415.2:p.Lys173Asn",
        "hgvsWellDefined": "NP_000415.2:p.Lys173Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106405",
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "NM_000424.4:c.519G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000415.2:p.Lys173Asn",
        "hgvsWellDefined": "NP_000415.2:p.Lys173Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662436",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252242.9:c.519G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000424.4:c.519G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252242.4:p.Lys173Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000415.2:p.Lys173Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}