{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA217123820",
  "communityStandardTitle": [
    "NM_000519.4(HBD):c.272A>G (p.Glu91Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5255264T>C?assembly=hg19",
        "id": "chr11:g.5255264T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5234034T>C?assembly=hg38",
        "id": "chr11:g.5234034T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34420481",
        "rs": 34420481
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 5234034,
          "referenceAllele": "T",
          "start": 5234033
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5234034T>C",
        "CM000673.2:g.5234034T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 5255264,
          "referenceAllele": "T",
          "start": 5255263
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5255264T>C",
        "CM000673.1:g.5255264T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 5211840,
          "referenceAllele": "T",
          "start": 5211839
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5211840T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63582,
          "referenceAllele": "A",
          "start": 63581
        }
      ],
      "hgvs": [
        "NG_000007.3:g.63582A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14624,
          "referenceAllele": "A",
          "start": 14623
        }
      ],
      "hgvs": [
        "NG_063112.2:g.14624A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673902"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 508,
          "referenceAllele": "A",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000643122.1:c.272A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494708.1:p.Glu91Gly",
        "hgvsWellDefined": "ENSP00000494708.1:p.Glu91Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 322,
          "referenceAllele": "A",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000650601.1:c.272A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497529.1:p.Glu91Gly",
        "hgvsWellDefined": "ENSP00000497529.1:p.Glu91Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650601.1:c.272A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000519.4:c.272A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497529.1:p.Glu91Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000510.1:p.Glu91Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 322,
          "referenceAllele": "A",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000292901.7:c.272A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292901.3:p.Glu91Gly",
        "hgvsWellDefined": "ENSP00000292901.3:p.Glu91Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253854"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 487,
          "referenceAllele": "A",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000380299.3:c.272A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369654.3:p.Glu91Gly",
        "hgvsWellDefined": "ENSP00000369654.3:p.Glu91Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "endIntronDirection": "+",
          "endIntronOffset": 308,
          "referenceAllele": "A",
          "start": 142,
          "startIntronDirection": "+",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000417377.1:c.92+308A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414741.1:n.92+308A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284894"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 525,
          "referenceAllele": "A",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000429817.1:c.272A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393810.1:p.Glu91Gly",
        "hgvsWellDefined": "ENSP00000393810.1:p.Glu91Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077698628",
      "coordinates": [
        {
          "allele": "G",
          "end": 467,
          "referenceAllele": "A",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "NM_000519.3:c.272A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000510.1:p.Glu91Gly",
        "hgvsWellDefined": "NP_000510.1:p.Glu91Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077698628",
      "coordinates": [
        {
          "allele": "G",
          "end": 322,
          "referenceAllele": "A",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "NM_000519.4:c.272A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000510.1:p.Glu91Gly",
        "hgvsWellDefined": "NP_000510.1:p.Glu91Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650601.1:c.272A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000519.4:c.272A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497529.1:p.Glu91Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000510.1:p.Glu91Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}