{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA124709",
  "communityStandardTitle": [
    "NM_000519.4(HBD):c.401T>C (p.Val134Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30125[alleleid]",
        "alleleId": 30125,
        "preferredName": "NM_000519.4(HBD):c.401T>C (p.Val134Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15086",
        "RCV": [
          "RCV000016239"
        ],
        "variationId": 15086
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5254237A>G?assembly=hg19",
        "id": "chr11:g.5254237A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5233007A>G?assembly=hg38",
        "id": "chr11:g.5233007A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34802738",
        "rs": 34802738
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5233007-A-G?dataset=gnomad_r4",
        "id": "11-5233007-A-G",
        "variant": "11:5233007 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 5233007,
          "referenceAllele": "A",
          "start": 5233006
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5233007A>G",
        "CM000673.2:g.5233007A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 5254237,
          "referenceAllele": "A",
          "start": 5254236
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5254237A>G",
        "CM000673.1:g.5254237A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 5210813,
          "referenceAllele": "A",
          "start": 5210812
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5210813A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64609,
          "referenceAllele": "T",
          "start": 64608
        }
      ],
      "hgvs": [
        "NG_000007.3:g.64609T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15651,
          "referenceAllele": "T",
          "start": 15650
        }
      ],
      "hgvs": [
        "NG_063112.2:g.15651T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673902"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 637,
          "referenceAllele": "T",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000643122.1:c.401T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494708.1:p.Val134Ala",
        "hgvsWellDefined": "ENSP00000494708.1:p.Val134Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "referenceAllele": "T",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000650601.1:c.401T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497529.1:p.Val134Ala",
        "hgvsWellDefined": "ENSP00000497529.1:p.Val134Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650601.1:c.401T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000519.4:c.401T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497529.1:p.Val134Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000510.1:p.Val134Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365,
          "endIntronDirection": "-",
          "endIntronOffset": 208,
          "referenceAllele": "T",
          "start": 365,
          "startIntronDirection": "-",
          "startIntronOffset": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000292901.7:c.316-209T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292901.3:n.316-209T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253854"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 616,
          "referenceAllele": "T",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000380299.3:c.401T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369654.3:p.Val134Ala",
        "hgvsWellDefined": "ENSP00000369654.3:p.Val134Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 228,
          "referenceAllele": "T",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000417377.1:c.178T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414741.1:p.Trp60Arg",
        "hgvsWellDefined": "ENSP00000414741.1:p.Trp60Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124710",
      "coordinates": [
        {
          "allele": "C",
          "end": 596,
          "referenceAllele": "T",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "NM_000519.3:c.401T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000510.1:p.Val134Ala",
        "hgvsWellDefined": "NP_000510.1:p.Val134Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124710",
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "referenceAllele": "T",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "NM_000519.4:c.401T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000510.1:p.Val134Ala",
        "hgvsWellDefined": "NP_000510.1:p.Val134Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650601.1:c.401T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000519.4:c.401T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497529.1:p.Val134Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000510.1:p.Val134Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}