{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6582621",
  "communityStandardTitle": [
    "NM_000424.4(KRT5):c.1124A>G (p.His375Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2378111[alleleid]",
        "alleleId": 2378111,
        "preferredName": "NM_000424.4(KRT5):c.1124A>G (p.His375Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2395495",
        "RCV": [
          "RCV002744022",
          "RCV003720745"
        ],
        "variationId": 2395495
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-52910985-T-C",
        "id": "12-52910985-T-C",
        "variant": "12:52910985 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52910985T>C?assembly=hg19",
        "id": "chr12:g.52910985T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52517201T>C?assembly=hg38",
        "id": "chr12:g.52517201T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757166763",
        "rs": 757166763
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52910985-T-C?dataset=gnomad_r2_1",
        "id": "12-52910985-T-C",
        "variant": "12:52910985 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52517201-T-C?dataset=gnomad_r3",
        "id": "12-52517201-T-C",
        "variant": "12:52517201 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52517201-T-C?dataset=gnomad_r4",
        "id": "12-52517201-T-C",
        "variant": "12:52517201 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 52517201,
          "referenceAllele": "T",
          "start": 52517200
        }
      ],
      "hgvs": [
        "NC_000012.12:g.52517201T>C",
        "CM000674.2:g.52517201T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 52910985,
          "referenceAllele": "T",
          "start": 52910984
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52910985T>C",
        "CM000674.1:g.52910985T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 51197252,
          "referenceAllele": "T",
          "start": 51197251
        }
      ],
      "hgvs": [
        "NC_000012.10:g.51197252T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8259,
          "referenceAllele": "A",
          "start": 8258
        }
      ],
      "hgvs": [
        "NG_008297.1:g.8259A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001010"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1222,
          "referenceAllele": "A",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000252242.9:c.1124A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252242.4:p.His375Arg",
        "hgvsWellDefined": "ENSP00000252242.4:p.His375Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741522",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252242.9:c.1124A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000424.4:c.1124A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252242.4:p.His375Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000415.2:p.His375Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1515,
          "referenceAllele": "A",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000252242.8:c.1124A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252242.4:p.His375Arg",
        "hgvsWellDefined": "ENSP00000252242.4:p.His375Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 253,
          "referenceAllele": "A",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000547890.5:n.253A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "referenceAllele": "A",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000548409.5:c.246A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "referenceAllele": "A",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000549511.5:n.331A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "A",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000551013.1:n.762A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368407"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 567,
          "referenceAllele": "A",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000551188.5:c.567A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368516"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1222,
          "referenceAllele": "A",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000552629.5:n.1222A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580112447",
      "coordinates": [
        {
          "allele": "G",
          "end": 1287,
          "referenceAllele": "A",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "NM_000424.3:c.1124A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000415.2:p.His375Arg",
        "hgvsWellDefined": "NP_000415.2:p.His375Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580112447",
      "coordinates": [
        {
          "allele": "G",
          "end": 1222,
          "referenceAllele": "A",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "NM_000424.4:c.1124A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000415.2:p.His375Arg",
        "hgvsWellDefined": "NP_000415.2:p.His375Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662436",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252242.9:c.1124A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000424.4:c.1124A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252242.4:p.His375Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000415.2:p.His375Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}