{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402918114",
  "communityStandardTitle": [
    "NM_001972.4(ELANE):c.451T>A (p.Cys151Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.855648T>A?assembly=hg19",
        "id": "chr19:g.855648T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.855648T>A?assembly=hg38",
        "id": "chr19:g.855648T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 855648,
          "referenceAllele": "T",
          "start": 855647
        }
      ],
      "hgvs": [
        "NC_000019.10:g.855648T>A",
        "CM000681.2:g.855648T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 855648,
          "referenceAllele": "T",
          "start": 855647
        }
      ],
      "hgvs": [
        "NC_000019.9:g.855648T>A",
        "CM000681.1:g.855648T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 806648,
          "referenceAllele": "T",
          "start": 806647
        }
      ],
      "hgvs": [
        "NC_000019.8:g.806648T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 984,
          "referenceAllele": "T",
          "start": 983
        }
      ],
      "hgvs": [
        "NG_007274.1:g.984T>A",
        "LRG_46:g.984T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000522"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8358,
          "referenceAllele": "T",
          "start": 8357
        }
      ],
      "hgvs": [
        "NG_009627.1:g.8358T>A",
        "LRG_57:g.8358T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001618"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "T",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "ENST00000263621.2:c.451T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263621.1:p.Cys151Ser",
        "hgvsWellDefined": "ENSP00000263621.1:p.Cys151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263621.2:c.451T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001972.4:c.451T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263621.1:p.Cys151Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001963.1:p.Cys151Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "referenceAllele": "T",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "ENST00000263621.1:c.451T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263621.1:p.Cys151Ser",
        "hgvsWellDefined": "ENSP00000263621.1:p.Cys151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 592,
          "referenceAllele": "T",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "ENST00000590230.5:c.451T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466090.1:p.Cys151Ser",
        "hgvsWellDefined": "ENSP00000466090.1:p.Cys151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100938",
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "referenceAllele": "T",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "NM_001972.2:c.451T>A",
        "LRG_57t1:c.451T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001963.1:p.Cys151Ser",
        "hgvsWellDefined": "NP_001963.1:p.Cys151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "referenceAllele": "T",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "XM_011527775.1:c.451T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526077.1:p.Cys151Ser",
        "hgvsWellDefined": "XP_011526077.1:p.Cys151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 587,
          "referenceAllele": "T",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "XM_011527776.1:c.451T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526078.1:p.Cys151Ser",
        "hgvsWellDefined": "XP_011526078.1:p.Cys151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094859"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100938",
      "coordinates": [
        {
          "allele": "A",
          "end": 571,
          "referenceAllele": "T",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "NM_001972.3:c.451T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001963.1:p.Cys151Ser",
        "hgvsWellDefined": "NP_001963.1:p.Cys151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100938",
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "T",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "NM_001972.4:c.451T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001963.1:p.Cys151Ser",
        "hgvsWellDefined": "NP_001963.1:p.Cys151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665281",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263621.2:c.451T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001972.4:c.451T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263621.1:p.Cys151Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001963.1:p.Cys151Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}