{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16603237",
  "communityStandardTitle": [
    "NM_001972.4(ELANE):c.170C>T (p.Ala57Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363906[alleleid]",
        "alleleId": 363906,
        "preferredName": "NM_001972.4(ELANE):c.170C>T (p.Ala57Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/377028",
        "RCV": [
          "RCV000429848"
        ],
        "variationId": 377028
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.852978C>T?assembly=hg19",
        "id": "chr19:g.852978C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.852978C>T?assembly=hg38",
        "id": "chr19:g.852978C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520110",
        "rs": 1057520110
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 852978,
          "referenceAllele": "C",
          "start": 852977
        }
      ],
      "hgvs": [
        "NC_000019.10:g.852978C>T",
        "CM000681.2:g.852978C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 852978,
          "referenceAllele": "C",
          "start": 852977
        }
      ],
      "hgvs": [
        "NC_000019.9:g.852978C>T",
        "CM000681.1:g.852978C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 803978,
          "referenceAllele": "C",
          "start": 803977
        }
      ],
      "hgvs": [
        "NC_000019.8:g.803978C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5688,
          "referenceAllele": "C",
          "start": 5687
        }
      ],
      "hgvs": [
        "NG_009627.1:g.5688C>T",
        "LRG_57:g.5688C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001618"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "C",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "ENST00000263621.2:c.170C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263621.1:p.Ala57Val",
        "hgvsWellDefined": "ENSP00000263621.1:p.Ala57Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263621.2:c.170C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001972.4:c.170C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263621.1:p.Ala57Val"
          },
          "RefSeq": {
            "hgvs": "NP_001963.1:p.Ala57Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 208,
          "referenceAllele": "C",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "ENST00000263621.1:c.170C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263621.1:p.Ala57Val",
        "hgvsWellDefined": "ENSP00000263621.1:p.Ala57Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 311,
          "referenceAllele": "C",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "ENST00000590230.5:c.170C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466090.1:p.Ala57Val",
        "hgvsWellDefined": "ENSP00000466090.1:p.Ala57Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100855",
      "coordinates": [
        {
          "allele": "T",
          "end": 208,
          "referenceAllele": "C",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "NM_001972.2:c.170C>T",
        "LRG_57t1:c.170C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001963.1:p.Ala57Val",
        "hgvsWellDefined": "NP_001963.1:p.Ala57Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "XM_011527775.1:c.170C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526077.1:p.Ala57Val",
        "hgvsWellDefined": "XP_011526077.1:p.Ala57Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "XM_011527776.1:c.170C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526078.1:p.Ala57Val",
        "hgvsWellDefined": "XP_011526078.1:p.Ala57Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094859"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100855",
      "coordinates": [
        {
          "allele": "T",
          "end": 290,
          "referenceAllele": "C",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "NM_001972.3:c.170C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001963.1:p.Ala57Val",
        "hgvsWellDefined": "NP_001963.1:p.Ala57Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100855",
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "C",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "NM_001972.4:c.170C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001963.1:p.Ala57Val",
        "hgvsWellDefined": "NP_001963.1:p.Ala57Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665281",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263621.2:c.170C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001972.4:c.170C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263621.1:p.Ala57Val"
          },
          "RefSeq": {
            "hgvs": "NP_001963.1:p.Ala57Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}