{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10460142",
  "communityStandardTitle": [
    "NM_006639.4(CYSLTR1):c.927C>T (p.Phe309=)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-77528317-G-A",
        "id": "X-77528317-G-A",
        "variant": "X:77528317 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77528317G>A?assembly=hg19",
        "id": "chrX:g.77528317G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.78272820G>A?assembly=hg38",
        "id": "chrX:g.78272820G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/320995",
        "rs": 320995
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77528317-G-A?dataset=gnomad_r2_1",
        "id": "X-77528317-G-A",
        "variant": "X:77528317 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-78272820-G-A?dataset=gnomad_r3",
        "id": "X-78272820-G-A",
        "variant": "X:78272820 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-78272820-G-A?dataset=gnomad_r4",
        "id": "X-78272820-G-A",
        "variant": "X:78272820 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 78272820,
          "referenceAllele": "G",
          "start": 78272819
        }
      ],
      "hgvs": [
        "NC_000023.11:g.78272820G>A",
        "CM000685.2:g.78272820G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 77528317,
          "referenceAllele": "G",
          "start": 77528316
        }
      ],
      "hgvs": [
        "NC_000023.10:g.77528317G>A",
        "CM000685.1:g.77528317G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 77414973,
          "referenceAllele": "G",
          "start": 77414972
        }
      ],
      "hgvs": [
        "NC_000023.9:g.77414973G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59771,
          "referenceAllele": "C",
          "start": 59770
        }
      ],
      "hgvs": [
        "NG_012809.1:g.59771C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002547"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1348,
          "referenceAllele": "C",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017451",
      "geneNCBI_id": 10800,
      "geneSymbol": "CYSLTR1",
      "hgvs": [
        "ENST00000373304.4:c.927C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362401.3:p.Phe309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373304.4:c.927C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006639.4:c.927C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362401.3:p.Phe309="
          },
          "RefSeq": {
            "hgvs": "NP_006630.1:p.Phe309="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1220,
          "referenceAllele": "C",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017451",
      "geneNCBI_id": 10800,
      "geneSymbol": "CYSLTR1",
      "hgvs": [
        "ENST00000373304.3:c.927C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362401.3:p.Phe309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1341,
          "referenceAllele": "C",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017451",
      "geneNCBI_id": 10800,
      "geneSymbol": "CYSLTR1",
      "hgvs": [
        "ENST00000614798.1:c.927C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478492.1:p.Phe309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1341,
          "referenceAllele": "C",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017451",
      "geneNCBI_id": 10800,
      "geneSymbol": "CYSLTR1",
      "hgvs": [
        "NM_001282186.1:c.927C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269115.1:p.Phe309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017451",
      "geneNCBI_id": 10800,
      "geneSymbol": "CYSLTR1",
      "hgvs": [
        "NM_001282187.1:c.927C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269116.1:p.Phe309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1488,
          "referenceAllele": "C",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017451",
      "geneNCBI_id": 10800,
      "geneSymbol": "CYSLTR1",
      "hgvs": [
        "NM_001282188.1:c.927C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269117.1:p.Phe309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063187188",
      "coordinates": [
        {
          "allele": "T",
          "end": 1428,
          "referenceAllele": "C",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017451",
      "geneNCBI_id": 10800,
      "geneSymbol": "CYSLTR1",
      "hgvs": [
        "NM_006639.3:c.927C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006630.1:p.Phe309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031637"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063187188",
      "coordinates": [
        {
          "allele": "T",
          "end": 1348,
          "referenceAllele": "C",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017451",
      "geneNCBI_id": 10800,
      "geneSymbol": "CYSLTR1",
      "hgvs": [
        "NM_006639.4:c.927C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006630.1:p.Phe309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667556",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373304.4:c.927C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006639.4:c.927C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362401.3:p.Phe309="
          },
          "RefSeq": {
            "hgvs": "NP_006630.1:p.Phe309="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1431,
          "referenceAllele": "C",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017451",
      "geneNCBI_id": 10800,
      "geneSymbol": "CYSLTR1",
      "hgvs": [
        "NM_001282187.2:c.927C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269116.1:p.Phe309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1408,
          "referenceAllele": "C",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017451",
      "geneNCBI_id": 10800,
      "geneSymbol": "CYSLTR1",
      "hgvs": [
        "NM_001282188.2:c.927C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269117.1:p.Phe309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017451",
      "geneNCBI_id": 10800,
      "geneSymbol": "CYSLTR1",
      "hgvs": [
        "NM_001282186.2:c.927C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269115.1:p.Phe309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715753"
    }
  ],
  "type": "nucleotide"
}