{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14510239",
  "communityStandardTitle": [
    "NM_182978.4(GNAL):c.377-864T>G"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN6663367"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1232823[alleleid]",
        "alleleId": 1232823,
        "preferredName": "NM_182978.4(GNAL):c.377-864T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1242048",
        "RCV": [
          "RCV001647898"
        ],
        "variationId": 1242048
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.11751988T>G?assembly=hg19",
        "id": "chr18:g.11751988T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.11751989T>G?assembly=hg38",
        "id": "chr18:g.11751989T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/8087001",
        "rs": 8087001
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-11751988-T-G?dataset=gnomad_r2_1",
        "id": "18-11751988-T-G",
        "variant": "18:11751988 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-11751989-T-G?dataset=gnomad_r3",
        "id": "18-11751989-T-G",
        "variant": "18:11751989 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-11751989-T-G?dataset=gnomad_r4",
        "id": "18-11751989-T-G",
        "variant": "18:11751989 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 11751989,
          "referenceAllele": "T",
          "start": 11751988
        }
      ],
      "hgvs": [
        "NC_000018.10:g.11751989T>G",
        "CM000680.2:g.11751989T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 11751988,
          "referenceAllele": "T",
          "start": 11751987
        }
      ],
      "hgvs": [
        "NC_000018.9:g.11751988T>G",
        "CM000680.1:g.11751988T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 11741988,
          "referenceAllele": "T",
          "start": 11741987
        }
      ],
      "hgvs": [
        "NC_000018.8:g.11741988T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67975,
          "referenceAllele": "T",
          "start": 67974
        }
      ],
      "hgvs": [
        "NG_033866.1:g.67975T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005553"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 676,
          "endIntronDirection": "-",
          "endIntronOffset": 863,
          "referenceAllele": "T",
          "start": 676,
          "startIntronDirection": "-",
          "startIntronOffset": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000334049.11:c.377-864T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334051.5:n.377-864T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000334049.11:c.377-864T>G"
          },
          "RefSeq": {
            "hgvs": "NM_182978.4:c.377-864T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334051.5:n.377-864T>G"
          },
          "RefSeq": {
            "hgvs": "NP_892023.1:n.377-864T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 199,
          "endIntronDirection": "+",
          "endIntronOffset": 283,
          "referenceAllele": "T",
          "start": 199,
          "startIntronDirection": "+",
          "startIntronOffset": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000269162.9:c.-103+283T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269162.4:n.-103+283T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 984,
          "endIntronDirection": "-",
          "endIntronOffset": 863,
          "referenceAllele": "T",
          "start": 984,
          "startIntronDirection": "-",
          "startIntronOffset": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000334049.10:c.377-864T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334051.5:n.377-864T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259815"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37,
          "endIntronDirection": "-",
          "endIntronOffset": 342,
          "referenceAllele": "T",
          "start": 37,
          "startIntronDirection": "-",
          "startIntronOffset": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000535121.5:c.-102-343T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439023.1:n.-102-343T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 235,
          "endIntronDirection": "+",
          "endIntronOffset": 283,
          "referenceAllele": "T",
          "start": 235,
          "startIntronDirection": "+",
          "startIntronOffset": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001142339.2:c.-103+283T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135811.1:n.-103+283T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37,
          "endIntronDirection": "-",
          "endIntronOffset": 342,
          "referenceAllele": "T",
          "start": 37,
          "startIntronDirection": "-",
          "startIntronOffset": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001261443.1:c.-102-343T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248372.1:n.-102-343T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 925,
          "endIntronDirection": "-",
          "endIntronOffset": 863,
          "referenceAllele": "T",
          "start": 925,
          "startIntronDirection": "-",
          "startIntronOffset": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_182978.3:c.377-864T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_892023.1:n.377-864T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 711,
          "endIntronDirection": "-",
          "endIntronOffset": 863,
          "referenceAllele": "T",
          "start": 711,
          "startIntronDirection": "-",
          "startIntronOffset": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "XM_006722324.1:c.377-864T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722387.1:n.377-864T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 199,
          "endIntronDirection": "+",
          "endIntronOffset": 283,
          "referenceAllele": "T",
          "start": 199,
          "startIntronDirection": "+",
          "startIntronOffset": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "XM_011525654.1:c.-106+283T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523956.1:n.-106+283T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 925,
          "endIntronDirection": "-",
          "endIntronOffset": 863,
          "referenceAllele": "T",
          "start": 925,
          "startIntronDirection": "-",
          "startIntronOffset": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "XM_006722324.3:c.377-864T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722387.1:n.377-864T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 374,
          "referenceAllele": "T",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "XM_024451164.1:c.-445T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306932.1:n.-445T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 676,
          "endIntronDirection": "-",
          "endIntronOffset": 863,
          "referenceAllele": "T",
          "start": 676,
          "startIntronDirection": "-",
          "startIntronOffset": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_182978.4:c.377-864T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_892023.1:n.377-864T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673042",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000334049.11:c.377-864T>G"
          },
          "RefSeq": {
            "hgvs": "NM_182978.4:c.377-864T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334051.5:n.377-864T>G"
          },
          "RefSeq": {
            "hgvs": "NP_892023.1:n.377-864T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 283,
          "referenceAllele": "T",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001142339.3:c.-103+283T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135811.1:n.-103+283T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37,
          "endIntronDirection": "-",
          "endIntronOffset": 342,
          "referenceAllele": "T",
          "start": 37,
          "startIntronDirection": "-",
          "startIntronOffset": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001261443.2:c.-102-343T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248372.1:n.-102-343T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715023"
    }
  ],
  "type": "nucleotide"
}