{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3254374",
  "communityStandardTitle": [
    "NM_000163.5(GHR):c.273T>A (p.Thr91=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=299846[alleleid]",
        "alleleId": 299846,
        "preferredName": "NM_000163.5(GHR):c.273T>A (p.Thr91=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/353680",
        "RCV": [
          "RCV000284817",
          "RCV000911159"
        ],
        "variationId": 353680
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-42695025-T-A",
        "id": "5-42695025-T-A",
        "variant": "5:42695025 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.42695025T>A?assembly=hg19",
        "id": "chr5:g.42695025T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.42694923T>A?assembly=hg38",
        "id": "chr5:g.42694923T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/138491809",
        "rs": 138491809
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-42695025-T-A?dataset=gnomad_r2_1",
        "id": "5-42695025-T-A",
        "variant": "5:42695025 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-42694923-T-A?dataset=gnomad_r3",
        "id": "5-42694923-T-A",
        "variant": "5:42694923 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-42694923-T-A?dataset=gnomad_r4",
        "id": "5-42694923-T-A",
        "variant": "5:42694923 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 42694923,
          "referenceAllele": "T",
          "start": 42694922
        }
      ],
      "hgvs": [
        "NC_000005.10:g.42694923T>A",
        "CM000667.2:g.42694923T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 42695025,
          "referenceAllele": "T",
          "start": 42695024
        }
      ],
      "hgvs": [
        "NC_000005.9:g.42695025T>A",
        "CM000667.1:g.42695025T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 42730782,
          "referenceAllele": "T",
          "start": 42730781
        }
      ],
      "hgvs": [
        "NC_000005.8:g.42730782T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276000,
          "referenceAllele": "T",
          "start": 275999
        }
      ],
      "hgvs": [
        "NG_011688.1:g.276000T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276000,
          "referenceAllele": "T",
          "start": 275999
        }
      ],
      "hgvs": [
        "NG_011688.2:g.276000T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673555"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 801,
          "referenceAllele": "T",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000230882.9:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230882.4:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230882.9:c.273T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000163.5:c.273T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230882.4:p.Thr91="
          },
          "RefSeq": {
            "hgvs": "NP_000154.1:p.Thr91="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "referenceAllele": "T",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000230882.8:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230882.4:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "referenceAllele": "T",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000357703.6:c.207T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350335.3:p.Thr69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 162,
          "referenceAllele": "T",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000511135.5:c.143T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422333.1:p.Leu48His",
        "hgvsWellDefined": "ENSP00000422333.1:p.Leu48His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 321,
          "referenceAllele": "T",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000537449.5:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442206.2:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 601,
          "referenceAllele": "T",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000612382.4:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478332.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401285"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000612626.4:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479846.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "referenceAllele": "T",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000615111.4:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478291.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "T",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000618088.4:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482373.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "T",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000620156.4:c.294T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483403.1:p.Thr98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "referenceAllele": "T",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000622294.2:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483926.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825075713",
      "coordinates": [
        {
          "allele": "A",
          "end": 465,
          "referenceAllele": "T",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_000163.4:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000154.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826298739",
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "T",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242399.2:c.294T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229328.1:p.Thr98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826298910",
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "referenceAllele": "T",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242400.2:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229329.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299216",
      "coordinates": [
        {
          "allele": "A",
          "end": 424,
          "referenceAllele": "T",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242401.3:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229330.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299522",
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "T",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242402.2:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229331.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299828",
      "coordinates": [
        {
          "allele": "A",
          "end": 601,
          "referenceAllele": "T",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242403.2:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229332.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826300134",
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242404.2:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229333.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826300440",
      "coordinates": [
        {
          "allele": "A",
          "end": 321,
          "referenceAllele": "T",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242405.2:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229334.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826300746",
      "coordinates": [
        {
          "allele": "A",
          "end": 687,
          "referenceAllele": "T",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242406.2:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229335.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826301254",
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "referenceAllele": "T",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242460.1:c.207T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229389.1:p.Thr69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826301546",
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "referenceAllele": "T",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242462.1:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229391.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 243,
          "referenceAllele": "T",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "XM_011514031.1:c.228T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512333.1:p.Thr76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825075713",
      "coordinates": [
        {
          "allele": "A",
          "end": 801,
          "referenceAllele": "T",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_000163.5:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000154.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662336",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230882.9:c.273T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000163.5:c.273T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230882.4:p.Thr91="
          },
          "RefSeq": {
            "hgvs": "NP_000154.1:p.Thr91="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299216",
      "coordinates": [
        {
          "allele": "A",
          "end": 435,
          "referenceAllele": "T",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242401.4:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229330.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299828",
      "coordinates": [
        {
          "allele": "A",
          "end": 364,
          "referenceAllele": "T",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242403.3:c.273T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229332.1:p.Thr91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714315"
    }
  ],
  "type": "nucleotide"
}