{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA357479537",
  "communityStandardTitle": [
    "NM_000668.6(ADH1B):c.143A>C (p.His48Pro)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.100239319T>G?assembly=hg19",
        "id": "chr4:g.100239319T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.99318162T>G?assembly=hg38",
        "id": "chr4:g.99318162T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1229984",
        "rs": 1229984
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-99318162-T-G?dataset=gnomad_r3",
        "id": "4-99318162-T-G",
        "variant": "4:99318162 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-99318162-T-G?dataset=gnomad_r4",
        "id": "4-99318162-T-G",
        "variant": "4:99318162 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 99318162,
          "referenceAllele": "T",
          "start": 99318161
        }
      ],
      "hgvs": [
        "NC_000004.12:g.99318162T>G",
        "CM000666.2:g.99318162T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 100239319,
          "referenceAllele": "T",
          "start": 100239318
        }
      ],
      "hgvs": [
        "NC_000004.11:g.100239319T>G",
        "CM000666.1:g.100239319T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 100458342,
          "referenceAllele": "T",
          "start": 100458341
        }
      ],
      "hgvs": [
        "NC_000004.10:g.100458342T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8254,
          "referenceAllele": "A",
          "start": 8253
        }
      ],
      "hgvs": [
        "NG_011435.1:g.8254A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001713"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "referenceAllele": "A",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "ENST00000305046.13:c.143A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306606.8:p.His48Pro",
        "hgvsWellDefined": "ENSP00000306606.8:p.His48Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745165",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305046.13:c.143A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000668.6:c.143A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306606.8:p.His48Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000659.2:p.His48Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 228,
          "referenceAllele": "A",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "ENST00000639454.1:c.143A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491622.1:p.His48Pro",
        "hgvsWellDefined": "ENSP00000491622.1:p.His48Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765033"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 211,
          "referenceAllele": "A",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "ENST00000305046.12:c.143A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306606.8:p.His48Pro",
        "hgvsWellDefined": "ENSP00000306606.8:p.His48Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 197,
          "referenceAllele": "A",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "ENST00000504498.1:n.197A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "referenceAllele": "A",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "ENST00000506651.5:c.23A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425998.2:p.His8Pro",
        "hgvsWellDefined": "ENSP00000425998.2:p.His8Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2238,
          "referenceAllele": "A",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "ENST00000515694.4:n.2238A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 211,
          "referenceAllele": "A",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "ENST00000625860.2:c.23A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486614.1:p.His8Pro",
        "hgvsWellDefined": "ENSP00000486614.1:p.His8Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 706,
          "referenceAllele": "A",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "ENST00000632775.1:n.706A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069872819",
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "A",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "NM_000668.5:c.143A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000659.2:p.His48Pro",
        "hgvsWellDefined": "NP_000659.2:p.His48Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "referenceAllele": "A",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "NM_001286650.1:c.23A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273579.1:p.His8Pro",
        "hgvsWellDefined": "NP_001273579.1:p.His8Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023041"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069872819",
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "referenceAllele": "A",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "NM_000668.6:c.143A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000659.2:p.His48Pro",
        "hgvsWellDefined": "NP_000659.2:p.His48Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662526",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305046.13:c.143A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000668.6:c.143A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306606.8:p.His48Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000659.2:p.His48Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "referenceAllele": "A",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000250",
      "geneNCBI_id": 125,
      "geneSymbol": "ADH1B",
      "hgvs": [
        "NM_001286650.2:c.23A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273579.1:p.His8Pro",
        "hgvsWellDefined": "NP_001273579.1:p.His8Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682282"
    }
  ],
  "type": "nucleotide"
}