{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA125939",
  "communityStandardTitle": [
    "NM_000558.5(HBA1):c.394T>C (p.Ser132Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30881[alleleid]",
        "alleleId": 30881,
        "preferredName": "NM_000558.5(HBA1):c.394T>C (p.Ser132Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15842",
        "RCV": [
          "RCV000017187"
        ],
        "variationId": 15842
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.227375T>C?assembly=hg19",
        "id": "chr16:g.227375T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.177376T>C?assembly=hg38",
        "id": "chr16:g.177376T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35974739",
        "rs": 35974739
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 177376,
          "referenceAllele": "T",
          "start": 177375
        }
      ],
      "hgvs": [
        "NC_000016.10:g.177376T>C",
        "CM000678.2:g.177376T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 227375,
          "referenceAllele": "T",
          "start": 227374
        }
      ],
      "hgvs": [
        "NC_000016.9:g.227375T>C",
        "CM000678.1:g.227375T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 167375,
          "referenceAllele": "T",
          "start": 167374
        }
      ],
      "hgvs": [
        "NC_000016.8:g.167375T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 38239,
          "referenceAllele": "T",
          "start": 38238
        }
      ],
      "hgvs": [
        "NG_000006.1:g.38239T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5726,
          "referenceAllele": "T",
          "start": 5725
        }
      ],
      "hgvs": [
        "NG_059186.1:g.5726T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617596"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 431,
          "referenceAllele": "T",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000320868.9:c.394T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322421.5:p.Ser132Pro",
        "hgvsWellDefined": "ENSP00000322421.5:p.Ser132Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257870",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320868.9:c.394T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000558.5:c.394T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322421.5:p.Ser132Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000549.1:p.Ser132Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "T",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000397797.1:c.298T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380899.1:p.Ser100Pro",
        "hgvsWellDefined": "ENSP00000380899.1:p.Ser100Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 530,
          "referenceAllele": "T",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000472694.1:n.530T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA125940",
      "coordinates": [
        {
          "allele": "C",
          "end": 460,
          "referenceAllele": "T",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "NM_000558.4:c.394T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000549.1:p.Ser132Pro",
        "hgvsWellDefined": "NP_000549.1:p.Ser132Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA125940",
      "coordinates": [
        {
          "allele": "C",
          "end": 431,
          "referenceAllele": "T",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "NM_000558.5:c.394T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000549.1:p.Ser132Pro",
        "hgvsWellDefined": "NP_000549.1:p.Ser132Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320868.9:c.394T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000558.5:c.394T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322421.5:p.Ser132Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000549.1:p.Ser132Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}