{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2354655",
  "communityStandardTitle": [
    "NM_001394783.1(CCR5):c.468T>C (p.Ala156=)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-46414861-T-C",
        "id": "3-46414861-T-C",
        "variant": "3:46414861 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.46414861T>C?assembly=hg19",
        "id": "chr3:g.46414861T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.46373370T>C?assembly=hg38",
        "id": "chr3:g.46373370T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/542780938",
        "rs": 542780938
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-46414861-T-C?dataset=gnomad_r2_1",
        "id": "3-46414861-T-C",
        "variant": "3:46414861 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-46373370-T-C?dataset=gnomad_r3",
        "id": "3-46373370-T-C",
        "variant": "3:46373370 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-46373370-T-C?dataset=gnomad_r4",
        "id": "3-46373370-T-C",
        "variant": "3:46373370 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 46373370,
          "referenceAllele": "T",
          "start": 46373369
        }
      ],
      "hgvs": [
        "NC_000003.12:g.46373370T>C",
        "CM000665.2:g.46373370T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 46414861,
          "referenceAllele": "T",
          "start": 46414860
        }
      ],
      "hgvs": [
        "NC_000003.11:g.46414861T>C",
        "CM000665.1:g.46414861T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 46389865,
          "referenceAllele": "T",
          "start": 46389864
        }
      ],
      "hgvs": [
        "NC_000003.10:g.46389865T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8229,
          "referenceAllele": "T",
          "start": 8228
        }
      ],
      "hgvs": [
        "NG_012637.1:g.8229T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002492"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 522,
          "referenceAllele": "T",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001606",
      "geneNCBI_id": 1234,
      "geneSymbol": "CCR5",
      "hgvs": [
        "ENST00000292303.5:c.468T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292303.4:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823705",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292303.5:c.468T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001394783.1:c.468T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292303.4:p.Ala156="
          },
          "RefSeq": {
            "hgvs": "NP_001381712.1:p.Ala156="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 614,
          "referenceAllele": "T",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001606",
      "geneNCBI_id": 1234,
      "geneSymbol": "CCR5",
      "hgvs": [
        "ENST00000292303.4:c.468T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292303.4:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253797"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 701,
          "referenceAllele": "T",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001606",
      "geneNCBI_id": 1234,
      "geneSymbol": "CCR5",
      "hgvs": [
        "ENST00000445772.1:c.468T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404881.1:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068526310",
      "coordinates": [
        {
          "allele": "C",
          "end": 825,
          "referenceAllele": "T",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001606",
      "geneNCBI_id": 1234,
      "geneSymbol": "CCR5",
      "hgvs": [
        "NM_000579.3:c.468T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000570.1:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 590,
          "referenceAllele": "T",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001606",
      "geneNCBI_id": 1234,
      "geneSymbol": "CCR5",
      "hgvs": [
        "NM_001100168.1:c.468T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093638.1:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010857"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 391,
          "endIntronDirection": "-",
          "endIntronOffset": 1952,
          "referenceAllele": "A",
          "start": 391,
          "startIntronDirection": "-",
          "startIntronOffset": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054398",
      "geneNCBI_id": 102724297,
      "geneSymbol": "CCR5AS",
      "hgvs": [
        "NR_125406.1:n.392-1953A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068526310",
      "coordinates": [
        {
          "allele": "C",
          "end": 825,
          "referenceAllele": "T",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001606",
      "geneNCBI_id": 1234,
      "geneSymbol": "CCR5",
      "hgvs": [
        "NM_000579.4:c.468T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000570.1:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 590,
          "referenceAllele": "T",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001606",
      "geneNCBI_id": 1234,
      "geneSymbol": "CCR5",
      "hgvs": [
        "NM_001100168.2:c.468T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093638.1:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 522,
          "referenceAllele": "T",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001606",
      "geneNCBI_id": 1234,
      "geneSymbol": "CCR5",
      "hgvs": [
        "NM_001394783.1:c.468T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381712.1:p.Ala156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782418",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292303.5:c.468T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001394783.1:c.468T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292303.4:p.Ala156="
          },
          "RefSeq": {
            "hgvs": "NP_001381712.1:p.Ala156="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}