{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580589435",
  "communityStandardTitle": [
    "NM_000668.6(ADH1B):c.*52A>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17033",
        "rs": 17033
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 99307788,
          "referenceAllele": "T",
          "start": 99307787
        }
      ],
      "hgvs": [
        "NC_000004.12:g.99307788T>G",
        "CM000666.2:g.99307788T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 100228945,
          "referenceAllele": "T",
          "start": 100228944
        }
      ],
      "hgvs": [
        "NC_000004.11:g.100228945T>G",
        "CM000666.1:g.100228945T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 100447968,
          "referenceAllele": "T",
          "start": 100447967
        }
      ],
      "hgvs": [
        "NC_000004.10:g.100447968T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18628,
          "referenceAllele": "A",
          "start": 18627
        }
      ],
      "hgvs": [
        "NG_011435.1:g.18628A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001713"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "referenceAllele": "A",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "ENST00000305046.13:c.*52A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306606.8:n.*52A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745165",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305046.13:c.*52A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000668.6:c.*52A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306606.8:n.*52A>C"
          },
          "RefSeq": {
            "hgvs": "NP_000659.2:n.*52A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1248,
          "referenceAllele": "A",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "ENST00000305046.12:c.*52A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306606.8:n.*52A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "A",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "ENST00000506651.5:c.*52A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425998.2:n.*52A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3275,
          "referenceAllele": "A",
          "start": 3274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "ENST00000515694.4:n.3275A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1248,
          "referenceAllele": "A",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "ENST00000625860.2:c.*52A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486614.1:n.*52A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1291,
          "referenceAllele": "A",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "NM_000668.5:c.*52A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000659.2:n.*52A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1413,
          "referenceAllele": "A",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "NM_001286650.1:c.*52A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273579.1:n.*52A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023041"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "referenceAllele": "A",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "NM_000668.6:c.*52A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000659.2:n.*52A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662526",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305046.13:c.*52A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000668.6:c.*52A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306606.8:n.*52A>C"
          },
          "RefSeq": {
            "hgvs": "NP_000659.2:n.*52A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "A",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "NM_001286650.2:c.*52A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273579.1:n.*52A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682282"
    }
  ],
  "type": "nucleotide"
}