{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355379498",
  "communityStandardTitle": [
    "NM_130770.3(HTR3C):c.1214G>A (p.Gly405Glu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.183778010G>A?assembly=hg19",
        "id": "chr3:g.183778010G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.184060222G>A?assembly=hg38",
        "id": "chr3:g.184060222G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6807362",
        "rs": 6807362
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-183778010-G-A?dataset=gnomad_r2_1",
        "id": "3-183778010-G-A",
        "variant": "3:183778010 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-184060222-G-A?dataset=gnomad_r4",
        "id": "3-184060222-G-A",
        "variant": "3:184060222 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 184060222,
          "referenceAllele": "G",
          "start": 184060221
        }
      ],
      "hgvs": [
        "NC_000003.12:g.184060222G>A",
        "CM000665.2:g.184060222G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 183778010,
          "referenceAllele": "G",
          "start": 183778009
        }
      ],
      "hgvs": [
        "NC_000003.11:g.183778010G>A",
        "CM000665.1:g.183778010G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 185260704,
          "referenceAllele": "G",
          "start": 185260703
        }
      ],
      "hgvs": [
        "NC_000003.10:g.185260704G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12176,
          "referenceAllele": "G",
          "start": 12175
        }
      ],
      "hgvs": [
        "NG_012749.1:g.12176G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002527"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024003",
      "geneNCBI_id": 170572,
      "geneSymbol": "HTR3C",
      "hgvs": [
        "ENST00000318351.2:c.1214G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322617.1:p.Gly405Glu",
        "hgvsWellDefined": "ENSP00000322617.1:p.Gly405Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318351.2:c.1214G>A"
          },
          "RefSeq": {
            "hgvs": "NM_130770.3:c.1214G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322617.1:p.Gly405Glu"
          },
          "RefSeq": {
            "hgvs": "NP_570126.2:p.Gly405Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024003",
      "geneNCBI_id": 170572,
      "geneSymbol": "HTR3C",
      "hgvs": [
        "ENST00000318351.1:c.1214G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322617.1:p.Gly405Glu",
        "hgvsWellDefined": "ENSP00000322617.1:p.Gly405Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068370822",
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024003",
      "geneNCBI_id": 170572,
      "geneSymbol": "HTR3C",
      "hgvs": [
        "NM_130770.2:c.1214G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_570126.2:p.Gly405Glu",
        "hgvsWellDefined": "NP_570126.2:p.Gly405Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040393"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068370822",
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024003",
      "geneNCBI_id": 170572,
      "geneSymbol": "HTR3C",
      "hgvs": [
        "NM_130770.3:c.1214G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_570126.2:p.Gly405Glu",
        "hgvsWellDefined": "NP_570126.2:p.Gly405Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699601",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318351.2:c.1214G>A"
          },
          "RefSeq": {
            "hgvs": "NM_130770.3:c.1214G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322617.1:p.Gly405Glu"
          },
          "RefSeq": {
            "hgvs": "NP_570126.2:p.Gly405Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}