{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3710780",
  "communityStandardTitle": [
    "NM_002117.6(HLA-C):c.369T>C (p.Ser123=)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-31239100-A-G",
        "id": "6-31239100-A-G",
        "variant": "6:31239100 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31239100A>G?assembly=hg19",
        "id": "chr6:g.31239100A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31271323A>G?assembly=hg38",
        "id": "chr6:g.31271323A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554181495",
        "rs": 1554181495
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31239100-A-G?dataset=gnomad_r2_1",
        "id": "6-31239100-A-G",
        "variant": "6:31239100 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31271323-A-G?dataset=gnomad_r3",
        "id": "6-31271323-A-G",
        "variant": "6:31271323 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31271323-A-G?dataset=gnomad_r4",
        "id": "6-31271323-A-G",
        "variant": "6:31271323 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 31271323,
          "referenceAllele": "A",
          "start": 31271322
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31271323A>G",
        "CM000668.2:g.31271323A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 31239100,
          "referenceAllele": "A",
          "start": 31239099
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31239100A>G",
        "CM000668.1:g.31239100A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 31347079,
          "referenceAllele": "A",
          "start": 31347078
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31347079A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5809,
          "referenceAllele": "T",
          "start": 5808
        }
      ],
      "hgvs": [
        "NG_029422.2:g.5809T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004374"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 390,
          "referenceAllele": "T",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376228.10:c.369T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365402.5:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824334",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376228.10:c.369T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002117.6:c.369T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365402.5:p.Ser123="
          },
          "RefSeq": {
            "hgvs": "NP_002108.4:p.Ser123="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 384,
          "referenceAllele": "T",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376228.9:c.369T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365402.5:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 386,
          "referenceAllele": "T",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376237.8:c.352T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365412.4:p.Trp118Arg",
        "hgvsWellDefined": "ENSP00000365412.4:p.Trp118Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 384,
          "referenceAllele": "T",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000383329.7:c.369T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372819.3:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273959"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 367,
          "referenceAllele": "T",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000415537.1:c.367T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 638,
          "referenceAllele": "T",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000484378.1:n.638T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "referenceAllele": "T",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000487245.5:n.728T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 558,
          "referenceAllele": "T",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000495835.1:n.558T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072126269",
      "coordinates": [
        {
          "allele": "C",
          "end": 434,
          "referenceAllele": "T",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "NM_002117.5:c.369T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002108.4:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072126269",
      "coordinates": [
        {
          "allele": "C",
          "end": 390,
          "referenceAllele": "T",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "NM_002117.6:c.369T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002108.4:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376228.10:c.369T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002117.6:c.369T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365402.5:p.Ser123="
          },
          "RefSeq": {
            "hgvs": "NP_002108.4:p.Ser123="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}