{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1811426",
  "communityStandardTitle": [
    "NM_001011552.4(SLC9A4):c.2350G>A (p.Gly784Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3766476"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-103149100-G-A",
        "id": "2-103149100-G-A",
        "variant": "2:103149100 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.103149100G>A?assembly=hg19",
        "id": "chr2:g.103149100G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.102532641G>A?assembly=hg38",
        "id": "chr2:g.102532641G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1014286",
        "rs": 1014286
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-103149100-G-A?dataset=gnomad_r2_1",
        "id": "2-103149100-G-A",
        "variant": "2:103149100 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-102532641-G-A?dataset=gnomad_r3",
        "id": "2-102532641-G-A",
        "variant": "2:102532641 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-102532641-G-A?dataset=gnomad_r4",
        "id": "2-102532641-G-A",
        "variant": "2:102532641 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 102532641,
          "referenceAllele": "G",
          "start": 102532640
        }
      ],
      "hgvs": [
        "NC_000002.12:g.102532641G>A",
        "CM000664.2:g.102532641G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 103149100,
          "referenceAllele": "G",
          "start": 103149099
        }
      ],
      "hgvs": [
        "NC_000002.11:g.103149100G>A",
        "CM000664.1:g.103149100G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 102515532,
          "referenceAllele": "G",
          "start": 102515531
        }
      ],
      "hgvs": [
        "NC_000002.10:g.102515532G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2884,
          "referenceAllele": "G",
          "start": 2883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011077",
      "geneNCBI_id": 389015,
      "geneSymbol": "SLC9A4",
      "hgvs": [
        "ENST00000295269.5:c.2350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295269.4:p.Gly784Ser",
        "hgvsWellDefined": "ENSP00000295269.4:p.Gly784Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744277",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295269.5:c.2350G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001011552.4:c.2350G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295269.4:p.Gly784Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001011552.2:p.Gly784Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2807,
          "referenceAllele": "G",
          "start": 2806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011077",
      "geneNCBI_id": 389015,
      "geneSymbol": "SLC9A4",
      "hgvs": [
        "ENST00000295269.4:c.2350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295269.4:p.Gly784Ser",
        "hgvsWellDefined": "ENSP00000295269.4:p.Gly784Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066499988",
      "coordinates": [
        {
          "allele": "A",
          "end": 2807,
          "referenceAllele": "G",
          "start": 2806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011077",
      "geneNCBI_id": 389015,
      "geneSymbol": "SLC9A4",
      "hgvs": [
        "NM_001011552.3:c.2350G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001011552.2:p.Gly784Ser",
        "hgvsWellDefined": "NP_001011552.2:p.Gly784Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2741,
          "referenceAllele": "G",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011077",
      "geneNCBI_id": 389015,
      "geneSymbol": "SLC9A4",
      "hgvs": [
        "XM_011511158.1:c.2263G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509460.1:p.Gly755Ser",
        "hgvsWellDefined": "XP_011509460.1:p.Gly755Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078419"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066499988",
      "coordinates": [
        {
          "allele": "A",
          "end": 2884,
          "referenceAllele": "G",
          "start": 2883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011077",
      "geneNCBI_id": 389015,
      "geneSymbol": "SLC9A4",
      "hgvs": [
        "NM_001011552.4:c.2350G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001011552.2:p.Gly784Ser",
        "hgvsWellDefined": "NP_001011552.2:p.Gly784Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295269.5:c.2350G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001011552.4:c.2350G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295269.4:p.Gly784Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001011552.2:p.Gly784Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}