{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA125145",
  "communityStandardTitle": [
    "NM_000518.5(HBB):c.44T>C (p.Leu15Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30380[alleleid]",
        "alleleId": 30380,
        "preferredName": "NM_000518.4(HBB):c.44T>C (p.Leu15Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15341",
        "RCV": [
          "RCV000016584",
          "RCV000508682",
          "RCV002490377",
          "RCV001527030",
          "RCV001826467"
        ],
        "variationId": 15341
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5248208A>G?assembly=hg19",
        "id": "chr11:g.5248208A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5226978A>G?assembly=hg38",
        "id": "chr11:g.5226978A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/33935445",
        "rs": 33935445
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5226978-A-G?dataset=gnomad_r3",
        "id": "11-5226978-A-G",
        "variant": "11:5226978 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5226978-A-G?dataset=gnomad_r4",
        "id": "11-5226978-A-G",
        "variant": "11:5226978 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 5226978,
          "referenceAllele": "A",
          "start": 5226977
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5226978A>G",
        "CM000673.2:g.5226978A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 5248208,
          "referenceAllele": "A",
          "start": 5248207
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5248208A>G",
        "CM000673.1:g.5248208A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 5204784,
          "referenceAllele": "A",
          "start": 5204783
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5204784A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 70638,
          "referenceAllele": "T",
          "start": 70637
        }
      ],
      "hgvs": [
        "NG_000007.3:g.70638T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5094,
          "referenceAllele": "T",
          "start": 5093
        }
      ],
      "hgvs": [
        "NG_059281.1:g.5094T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617598"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "referenceAllele": "T",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000647020.1:c.44T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494175.1:p.Leu15Pro",
        "hgvsWellDefined": "ENSP00000494175.1:p.Leu15Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 94,
          "referenceAllele": "T",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000335295.4:c.44T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333994.3:p.Leu15Pro",
        "hgvsWellDefined": "ENSP00000333994.3:p.Leu15Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260096",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.44T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.44T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Leu15Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Leu15Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 274,
          "referenceAllele": "T",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000380315.2:c.44T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369671.2:p.Leu15Pro",
        "hgvsWellDefined": "ENSP00000369671.2:p.Leu15Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 95,
          "referenceAllele": "T",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000485743.1:n.95T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 94,
          "referenceAllele": "T",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000633227.1:c.44T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488004.1:p.Leu15Pro",
        "hgvsWellDefined": "ENSP00000488004.1:p.Leu15Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA125146",
      "coordinates": [
        {
          "allele": "C",
          "end": 94,
          "referenceAllele": "T",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.4:c.44T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Leu15Pro",
        "hgvsWellDefined": "NP_000509.1:p.Leu15Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA125146",
      "coordinates": [
        {
          "allele": "C",
          "end": 94,
          "referenceAllele": "T",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.5:c.44T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Leu15Pro",
        "hgvsWellDefined": "NP_000509.1:p.Leu15Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.44T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.44T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Leu15Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Leu15Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}