{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2200883080",
  "communityStandardTitle": [
    "NM_000558.5(HBA1):c.242T= (p.Leu81=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34071856",
        "rs": 34071856
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 177075,
          "referenceAllele": "T",
          "start": 177074
        }
      ],
      "hgvs": [
        "NC_000016.10:g.177075T=",
        "CM000678.2:g.177075T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 227074,
          "referenceAllele": "T",
          "start": 227073
        }
      ],
      "hgvs": [
        "NC_000016.9:g.227074T=",
        "CM000678.1:g.227074T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 167074,
          "referenceAllele": "T",
          "start": 167073
        }
      ],
      "hgvs": [
        "NC_000016.8:g.167074T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37938,
          "referenceAllele": "T",
          "start": 37937
        }
      ],
      "hgvs": [
        "NG_000006.1:g.37938T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5425,
          "referenceAllele": "T",
          "start": 5424
        }
      ],
      "hgvs": [
        "NG_059186.1:g.5425T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617596"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "referenceAllele": "T",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000320868.9:c.242T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322421.5:p.Leu81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257870",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320868.9:c.242T="
          },
          "RefSeq": {
            "hgvs": "NM_000558.5:c.242T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322421.5:p.Leu81="
          },
          "RefSeq": {
            "hgvs": "NP_000549.1:p.Leu81="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 206,
          "referenceAllele": "T",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000397797.1:c.146T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380899.1:p.Leu49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "T",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000472694.1:n.378T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 211,
          "referenceAllele": "T",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000487791.1:n.211T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082807412",
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "referenceAllele": "T",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "NM_000558.4:c.242T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000549.1:p.Leu81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082807412",
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "referenceAllele": "T",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "NM_000558.5:c.242T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000549.1:p.Leu81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320868.9:c.242T="
          },
          "RefSeq": {
            "hgvs": "NM_000558.5:c.242T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322421.5:p.Leu81="
          },
          "RefSeq": {
            "hgvs": "NP_000549.1:p.Leu81="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}