{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2898184",
  "communityStandardTitle": [
    "NM_017581.4(CHRNA9):c.1325A>G (p.Asn442Ser)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-40356422-A-G",
        "id": "4-40356422-A-G",
        "variant": "4:40356422 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.40356422A>G?assembly=hg19",
        "id": "chr4:g.40356422A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.40354405A>G?assembly=hg38",
        "id": "chr4:g.40354405A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10009228",
        "rs": 10009228
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-40356422-A-G?dataset=gnomad_r2_1",
        "id": "4-40356422-A-G",
        "variant": "4:40356422 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-40354405-A-G?dataset=gnomad_r3",
        "id": "4-40354405-A-G",
        "variant": "4:40354405 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-40354405-A-G?dataset=gnomad_r4",
        "id": "4-40354405-A-G",
        "variant": "4:40354405 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 40354405,
          "referenceAllele": "A",
          "start": 40354404
        }
      ],
      "hgvs": [
        "NC_000004.12:g.40354405A>G",
        "CM000666.2:g.40354405A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 40356422,
          "referenceAllele": "A",
          "start": 40356421
        }
      ],
      "hgvs": [
        "NC_000004.11:g.40356422A>G",
        "CM000666.1:g.40356422A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 40051179,
          "referenceAllele": "A",
          "start": 40051178
        }
      ],
      "hgvs": [
        "NC_000004.10:g.40051179A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1460,
          "referenceAllele": "A",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014079",
      "geneNCBI_id": 55584,
      "geneSymbol": "CHRNA9",
      "hgvs": [
        "ENST00000310169.3:c.1325A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312663.2:p.Asn442Ser",
        "hgvsWellDefined": "ENSP00000312663.2:p.Asn442Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745615",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310169.3:c.1325A>G"
          },
          "RefSeq": {
            "hgvs": "NM_017581.4:c.1325A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000312663.2:p.Asn442Ser"
          },
          "RefSeq": {
            "hgvs": "NP_060051.2:p.Asn442Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1464,
          "referenceAllele": "A",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014079",
      "geneNCBI_id": 55584,
      "geneSymbol": "CHRNA9",
      "hgvs": [
        "ENST00000310169.2:c.1325A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312663.2:p.Asn442Ser",
        "hgvsWellDefined": "ENSP00000312663.2:p.Asn442Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256328"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069875259",
      "coordinates": [
        {
          "allele": "G",
          "end": 1464,
          "referenceAllele": "A",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014079",
      "geneNCBI_id": 55584,
      "geneSymbol": "CHRNA9",
      "hgvs": [
        "NM_017581.3:c.1325A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060051.2:p.Asn442Ser",
        "hgvsWellDefined": "NP_060051.2:p.Asn442Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069875259",
      "coordinates": [
        {
          "allele": "G",
          "end": 1460,
          "referenceAllele": "A",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014079",
      "geneNCBI_id": 55584,
      "geneSymbol": "CHRNA9",
      "hgvs": [
        "NM_017581.4:c.1325A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060051.2:p.Asn442Ser",
        "hgvsWellDefined": "NP_060051.2:p.Asn442Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669283",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310169.3:c.1325A>G"
          },
          "RefSeq": {
            "hgvs": "NM_017581.4:c.1325A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000312663.2:p.Asn442Ser"
          },
          "RefSeq": {
            "hgvs": "NP_060051.2:p.Asn442Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}