{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253980",
  "communityStandardTitle": [
    "NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21879[alleleid]",
        "alleleId": 21879,
        "preferredName": "NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6840",
        "RCV": [
          "RCV000007242"
        ],
        "variationId": 6840
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71954834G>A?assembly=hg19",
        "id": "chr11:g.71954834G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.72243790G>A?assembly=hg38",
        "id": "chr11:g.72243790G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894269",
        "rs": 104894269
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-72243790-G-A?dataset=gnomad_r4",
        "id": "11-72243790-G-A",
        "variant": "11:72243790 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 72243790,
          "referenceAllele": "G",
          "start": 72243789
        }
      ],
      "hgvs": [
        "NC_000011.10:g.72243790G>A",
        "CM000673.2:g.72243790G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 71954834,
          "referenceAllele": "G",
          "start": 71954833
        }
      ],
      "hgvs": [
        "NC_000011.9:g.71954834G>A",
        "CM000673.1:g.71954834G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 71632482,
          "referenceAllele": "G",
          "start": 71632481
        }
      ],
      "hgvs": [
        "NC_000011.8:g.71632482G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5387,
          "referenceAllele": "C",
          "start": 5386
        }
      ],
      "hgvs": [
        "NG_008169.1:g.5387C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000914"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000691",
      "geneNCBI_id": 401,
      "geneSymbol": "PHOX2A",
      "hgvs": [
        "ENST00000298231.5:c.215C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298231.5:p.Ala72Val",
        "hgvsWellDefined": "ENSP00000298231.5:p.Ala72Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298231.5:c.215C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005169.4:c.215C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298231.5:p.Ala72Val"
          },
          "RefSeq": {
            "hgvs": "NP_005160.2:p.Ala72Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85,
          "endIntronDirection": "+",
          "endIntronOffset": 1790,
          "referenceAllele": "C",
          "start": 85,
          "startIntronDirection": "+",
          "startIntronOffset": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000691",
      "geneNCBI_id": 401,
      "geneSymbol": "PHOX2A",
      "hgvs": [
        "ENST00000544057.1:n.85+1790C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100360",
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000691",
      "geneNCBI_id": 401,
      "geneSymbol": "PHOX2A",
      "hgvs": [
        "NM_005169.3:c.215C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005160.2:p.Ala72Val",
        "hgvsWellDefined": "NP_005160.2:p.Ala72Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100360",
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000691",
      "geneNCBI_id": 401,
      "geneSymbol": "PHOX2A",
      "hgvs": [
        "NM_005169.4:c.215C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005160.2:p.Ala72Val",
        "hgvsWellDefined": "NP_005160.2:p.Ala72Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298231.5:c.215C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005169.4:c.215C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298231.5:p.Ala72Val"
          },
          "RefSeq": {
            "hgvs": "NP_005160.2:p.Ala72Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}