{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11999780",
  "communityStandardTitle": [
    "NM_000163.5(GHR):c.-12+49498G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.42473555G>A?assembly=hg19",
        "id": "chr5:g.42473555G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.42473453G>A?assembly=hg38",
        "id": "chr5:g.42473453G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/13188386",
        "rs": 13188386
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-42473555-G-A?dataset=gnomad_r2_1",
        "id": "5-42473555-G-A",
        "variant": "5:42473555 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-42473453-G-A?dataset=gnomad_r3",
        "id": "5-42473453-G-A",
        "variant": "5:42473453 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-42473453-G-A?dataset=gnomad_r4",
        "id": "5-42473453-G-A",
        "variant": "5:42473453 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 42473453,
          "referenceAllele": "G",
          "start": 42473452
        }
      ],
      "hgvs": [
        "NC_000005.10:g.42473453G>A",
        "CM000667.2:g.42473453G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 42473555,
          "referenceAllele": "G",
          "start": 42473554
        }
      ],
      "hgvs": [
        "NC_000005.9:g.42473555G>A",
        "CM000667.1:g.42473555G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 42509312,
          "referenceAllele": "G",
          "start": 42509311
        }
      ],
      "hgvs": [
        "NC_000005.8:g.42509312G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54530,
          "referenceAllele": "G",
          "start": 54529
        }
      ],
      "hgvs": [
        "NG_011688.1:g.54530G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54530,
          "referenceAllele": "G",
          "start": 54529
        }
      ],
      "hgvs": [
        "NG_011688.2:g.54530G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673555"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 517,
          "endIntronDirection": "+",
          "endIntronOffset": 49498,
          "referenceAllele": "G",
          "start": 517,
          "startIntronDirection": "+",
          "startIntronOffset": 49497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000230882.9:c.-12+49498G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230882.4:n.-12+49498G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230882.9:c.-12+49498G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000163.5:c.-12+49498G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230882.4:n.-12+49498G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000154.1:n.-12+49498G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "endIntronDirection": "+",
          "endIntronOffset": 49498,
          "referenceAllele": "G",
          "start": 179,
          "startIntronDirection": "+",
          "startIntronOffset": 49497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000230882.8:c.-12+49498G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230882.4:n.-12+49498G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "endIntronDirection": "+",
          "endIntronOffset": 48855,
          "referenceAllele": "G",
          "start": 81,
          "startIntronDirection": "+",
          "startIntronOffset": 48854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000513671.5:c.-12+48855G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426739.1:n.-12+48855G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 40626,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 40627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000615111.4:c.-296-40627G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478291.1:n.-296-40627G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "endIntronDirection": "+",
          "endIntronOffset": 48855,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "+",
          "startIntronOffset": 48854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000620156.4:c.10+48855G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483403.1:n.10+48855G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 181,
          "endIntronDirection": "+",
          "endIntronOffset": 49498,
          "referenceAllele": "G",
          "start": 181,
          "startIntronDirection": "+",
          "startIntronOffset": 49497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_000163.4:c.-12+49498G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000154.1:n.-12+49498G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "endIntronDirection": "+",
          "endIntronOffset": 48855,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "+",
          "startIntronOffset": 48854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242399.2:c.10+48855G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229328.1:n.10+48855G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 40626,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 40627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242400.2:c.-296-40627G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229329.1:n.-296-40627G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47,
          "endIntronDirection": "-",
          "endIntronOffset": 9783,
          "referenceAllele": "G",
          "start": 47,
          "startIntronDirection": "-",
          "startIntronOffset": 9784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242401.3:c.-104-9784G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229330.1:n.-104-9784G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018105"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25,
          "endIntronDirection": "+",
          "endIntronOffset": 48855,
          "referenceAllele": "G",
          "start": 25,
          "startIntronDirection": "+",
          "startIntronOffset": 48854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "XM_011514031.1:c.10+48855G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512333.1:n.10+48855G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 517,
          "endIntronDirection": "+",
          "endIntronOffset": 49498,
          "referenceAllele": "G",
          "start": 517,
          "startIntronDirection": "+",
          "startIntronOffset": 49497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_000163.5:c.-12+49498G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000154.1:n.-12+49498G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662336",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230882.9:c.-12+49498G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000163.5:c.-12+49498G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230882.4:n.-12+49498G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000154.1:n.-12+49498G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 58,
          "endIntronDirection": "-",
          "endIntronOffset": 9783,
          "referenceAllele": "G",
          "start": 58,
          "startIntronDirection": "-",
          "startIntronOffset": 9784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242401.4:c.-104-9784G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229330.1:n.-104-9784G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680063"
    }
  ],
  "type": "nucleotide"
}