{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA276415423",
  "communityStandardTitle": [
    "NM_000517.6(HBA2):c.362C>A (p.Ala121Glu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.223532C>A?assembly=hg19",
        "id": "chr16:g.223532C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.173533C>A?assembly=hg38",
        "id": "chr16:g.173533C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/36075744",
        "rs": 36075744
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 173533,
          "referenceAllele": "C",
          "start": 173532
        }
      ],
      "hgvs": [
        "NC_000016.10:g.173533C>A",
        "CM000678.2:g.173533C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 223532,
          "referenceAllele": "C",
          "start": 223531
        }
      ],
      "hgvs": [
        "NC_000016.9:g.223532C>A",
        "CM000678.1:g.223532C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 163532,
          "referenceAllele": "C",
          "start": 163531
        }
      ],
      "hgvs": [
        "NC_000016.8:g.163532C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34396,
          "referenceAllele": "C",
          "start": 34395
        }
      ],
      "hgvs": [
        "NG_000006.1:g.34396C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1883,
          "referenceAllele": "C",
          "start": 1882
        }
      ],
      "hgvs": [
        "NG_059186.1:g.1883C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5687,
          "referenceAllele": "C",
          "start": 5686
        }
      ],
      "hgvs": [
        "NG_059271.1:g.5687C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000251595.11:c.362C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251595.6:p.Ala121Glu",
        "hgvsWellDefined": "ENSP00000251595.6:p.Ala121Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251595.11:c.362C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000517.6:c.362C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251595.6:p.Ala121Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000508.1:p.Ala121Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "C",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000251595.10:c.362C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251595.6:p.Ala121Glu",
        "hgvsWellDefined": "ENSP00000251595.6:p.Ala121Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 336,
          "referenceAllele": "C",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000397806.1:c.266C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380908.1:p.Ala89Glu",
        "hgvsWellDefined": "ENSP00000380908.1:p.Ala89Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000482565.1:n.498C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322226"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082808828",
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "C",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NM_000517.4:c.362C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000508.1:p.Ala121Glu",
        "hgvsWellDefined": "NP_000508.1:p.Ala121Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006574"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082808828",
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NM_000517.6:c.362C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000508.1:p.Ala121Glu",
        "hgvsWellDefined": "NP_000508.1:p.Ala121Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510807",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251595.11:c.362C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000517.6:c.362C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251595.6:p.Ala121Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000508.1:p.Ala121Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}