{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA124435",
  "communityStandardTitle": [
    "NM_014621.3(HOXD4):c.242A>T (p.Glu81Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29927[alleleid]",
        "alleleId": 29927,
        "preferredName": "NM_014621.3(HOXD4):c.242A>T (p.Glu81Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14888",
        "RCV": [
          "RCV000016017"
        ],
        "variationId": 14888
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-177016603-A-T",
        "id": "2-177016603-A-T",
        "variant": "2:177016603 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.177016603A>T?assembly=hg19",
        "id": "chr2:g.177016603A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.176151875A>T?assembly=hg38",
        "id": "chr2:g.176151875A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893636",
        "rs": 104893636
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-177016603-A-T?dataset=gnomad_r2_1",
        "id": "2-177016603-A-T",
        "variant": "2:177016603 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-176151875-A-T?dataset=gnomad_r3",
        "id": "2-176151875-A-T",
        "variant": "2:176151875 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-176151875-A-T?dataset=gnomad_r4",
        "id": "2-176151875-A-T",
        "variant": "2:176151875 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 176151875,
          "referenceAllele": "A",
          "start": 176151874
        }
      ],
      "hgvs": [
        "NC_000002.12:g.176151875A>T",
        "CM000664.2:g.176151875A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 177016603,
          "referenceAllele": "A",
          "start": 177016602
        }
      ],
      "hgvs": [
        "NC_000002.11:g.177016603A>T",
        "CM000664.1:g.177016603A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 176724849,
          "referenceAllele": "A",
          "start": 176724848
        }
      ],
      "hgvs": [
        "NC_000002.10:g.176724849A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5491,
          "referenceAllele": "A",
          "start": 5490
        }
      ],
      "hgvs": [
        "NG_012080.1:g.5491A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002165"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "A",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005138",
      "geneNCBI_id": 3233,
      "geneSymbol": "HOXD4",
      "hgvs": [
        "ENST00000306324.4:c.242A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302548.3:p.Glu81Val",
        "hgvsWellDefined": "ENSP00000302548.3:p.Glu81Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745280",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306324.4:c.242A>T"
          },
          "RefSeq": {
            "hgvs": "NM_014621.3:c.242A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302548.3:p.Glu81Val"
          },
          "RefSeq": {
            "hgvs": "NP_055436.2:p.Glu81Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "referenceAllele": "A",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005138",
      "geneNCBI_id": 3233,
      "geneSymbol": "HOXD4",
      "hgvs": [
        "ENST00000306324.3:c.242A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302548.3:p.Glu81Val",
        "hgvsWellDefined": "ENSP00000302548.3:p.Glu81Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43,
          "endIntronDirection": "+",
          "endIntronOffset": 14876,
          "referenceAllele": "A",
          "start": 43,
          "startIntronDirection": "+",
          "startIntronOffset": 14875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005137",
      "geneNCBI_id": 3232,
      "geneSymbol": "HOXD3",
      "hgvs": [
        "ENST00000432796.2:c.-85+14876A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392615.2:n.-85+14876A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 791,
          "referenceAllele": "A",
          "start": 790
        }
      ],
      "hgvs": [
        "ENST00000468418.4:c.242A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424734.3:p.Glu81Val",
        "hgvsWellDefined": "ENSP00000424734.3:p.Glu81Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311336"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124436",
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "A",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005138",
      "geneNCBI_id": 3233,
      "geneSymbol": "HOXD4",
      "hgvs": [
        "NM_014621.2:c.242A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055436.2:p.Glu81Val",
        "hgvsWellDefined": "NP_055436.2:p.Glu81Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79,
          "endIntronDirection": "-",
          "endIntronOffset": 12197,
          "referenceAllele": "A",
          "start": 79,
          "startIntronDirection": "-",
          "startIntronOffset": 12198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005137",
      "geneNCBI_id": 3232,
      "geneSymbol": "HOXD3",
      "hgvs": [
        "XM_005246510.3:c.-180-12198A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246567.1:n.-180-12198A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "A",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005138",
      "geneNCBI_id": 3233,
      "geneSymbol": "HOXD4",
      "hgvs": [
        "XM_005246514.3:c.242A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246571.1:p.Glu81Val",
        "hgvsWellDefined": "XP_005246571.1:p.Glu81Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69,
          "endIntronDirection": "+",
          "endIntronOffset": 14876,
          "referenceAllele": "A",
          "start": 69,
          "startIntronDirection": "+",
          "startIntronOffset": 14875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005137",
      "geneNCBI_id": 3232,
      "geneSymbol": "HOXD3",
      "hgvs": [
        "XM_006712477.2:c.-85+14876A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712540.1:n.-85+14876A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "A",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005138",
      "geneNCBI_id": 3233,
      "geneSymbol": "HOXD4",
      "hgvs": [
        "XM_005246514.4:c.242A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246571.1:p.Glu81Val",
        "hgvsWellDefined": "XP_005246571.1:p.Glu81Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532621"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124436",
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "A",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005138",
      "geneNCBI_id": 3233,
      "geneSymbol": "HOXD4",
      "hgvs": [
        "NM_014621.3:c.242A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055436.2:p.Glu81Val",
        "hgvsWellDefined": "NP_055436.2:p.Glu81Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668420",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306324.4:c.242A>T"
          },
          "RefSeq": {
            "hgvs": "NM_014621.3:c.242A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302548.3:p.Glu81Val"
          },
          "RefSeq": {
            "hgvs": "NP_055436.2:p.Glu81Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}