{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA443805565",
  "communityStandardTitle": [
    "NM_000163.5(GHR):c.945G>A (p.Lys315=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=485738[alleleid]",
        "alleleId": 485738,
        "preferredName": "NM_000163.5(GHR):c.945G>A (p.Lys315=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/492774",
        "RCV": [
          "RCV000582894"
        ],
        "variationId": 492774
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.42718223G>A?assembly=hg19",
        "id": "chr5:g.42718223G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.42718121G>A?assembly=hg38",
        "id": "chr5:g.42718121G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554040858",
        "rs": 1554040858
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-42718121-G-A?dataset=gnomad_r4",
        "id": "5-42718121-G-A",
        "variant": "5:42718121 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 42718121,
          "referenceAllele": "G",
          "start": 42718120
        }
      ],
      "hgvs": [
        "NC_000005.10:g.42718121G>A",
        "CM000667.2:g.42718121G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 42718223,
          "referenceAllele": "G",
          "start": 42718222
        }
      ],
      "hgvs": [
        "NC_000005.9:g.42718223G>A",
        "CM000667.1:g.42718223G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 42753980,
          "referenceAllele": "G",
          "start": 42753979
        }
      ],
      "hgvs": [
        "NC_000005.8:g.42753980G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299198,
          "referenceAllele": "G",
          "start": 299197
        }
      ],
      "hgvs": [
        "NG_011688.1:g.299198G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299198,
          "referenceAllele": "G",
          "start": 299197
        }
      ],
      "hgvs": [
        "NG_011688.2:g.299198G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673555"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1473,
          "referenceAllele": "G",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000230882.9:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230882.4:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230882.9:c.945G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000163.5:c.945G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230882.4:p.Lys315="
          },
          "RefSeq": {
            "hgvs": "NP_000154.1:p.Lys315="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1135,
          "referenceAllele": "G",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000230882.8:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230882.4:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "referenceAllele": "G",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000357703.6:c.879G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350335.3:p.Lys293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "G",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000511135.5:c.*557G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422333.1:n.*557G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000513625.1:n.420G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 993,
          "referenceAllele": "G",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000537449.5:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442206.2:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1273,
          "referenceAllele": "G",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000612382.4:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478332.1:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401285"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1098,
          "referenceAllele": "G",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000612626.4:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479846.1:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000615111.4:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478291.1:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "G",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000618088.4:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482373.1:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1103,
          "referenceAllele": "G",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000620156.4:c.966G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483403.1:p.Lys322="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 331,
          "referenceAllele": "G",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000622294.2:c.876-332G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483926.1:n.876-332G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825075813",
      "coordinates": [
        {
          "allele": "A",
          "end": 1137,
          "referenceAllele": "G",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_000163.4:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000154.1:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826298796",
      "coordinates": [
        {
          "allele": "A",
          "end": 1103,
          "referenceAllele": "G",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242399.2:c.966G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229328.1:p.Lys322="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299025",
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242400.2:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229329.1:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299331",
      "coordinates": [
        {
          "allele": "A",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242401.3:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229330.1:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299637",
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "G",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242402.2:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229331.1:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299943",
      "coordinates": [
        {
          "allele": "A",
          "end": 1273,
          "referenceAllele": "G",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242403.2:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229332.1:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826300249",
      "coordinates": [
        {
          "allele": "A",
          "end": 1098,
          "referenceAllele": "G",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242404.2:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229333.1:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826300555",
      "coordinates": [
        {
          "allele": "A",
          "end": 993,
          "referenceAllele": "G",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242405.2:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229334.1:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826300861",
      "coordinates": [
        {
          "allele": "A",
          "end": 1359,
          "referenceAllele": "G",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242406.2:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229335.1:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826301358",
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "referenceAllele": "G",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242460.1:c.879G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229389.1:p.Lys293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 331,
          "referenceAllele": "G",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242462.1:c.876-332G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229391.1:n.876-332G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 915,
          "referenceAllele": "G",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "XM_011514031.1:c.900G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512333.1:p.Lys300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825075813",
      "coordinates": [
        {
          "allele": "A",
          "end": 1473,
          "referenceAllele": "G",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_000163.5:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000154.1:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662336",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230882.9:c.945G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000163.5:c.945G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230882.4:p.Lys315="
          },
          "RefSeq": {
            "hgvs": "NP_000154.1:p.Lys315="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299331",
      "coordinates": [
        {
          "allele": "A",
          "end": 1107,
          "referenceAllele": "G",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242401.4:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229330.1:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299943",
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242403.3:c.945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229332.1:p.Lys315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714315"
    }
  ],
  "type": "nucleotide"
}