{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1138097",
  "communityStandardTitle": [
    "NM_004428.3(EFNA1):c.476A>T (p.Asp159Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3750404"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1258199[alleleid]",
        "alleleId": 1258199,
        "preferredName": "NM_004428.3(EFNA1):c.476A>T (p.Asp159Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1268289",
        "RCV": [
          "RCV001685615"
        ],
        "variationId": 1268289
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-155106227-A-T",
        "id": "1-155106227-A-T",
        "variant": "1:155106227 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155106227A>T?assembly=hg19",
        "id": "chr1:g.155106227A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155133751A>T?assembly=hg38",
        "id": "chr1:g.155133751A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4745",
        "rs": 4745
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155106227-A-T?dataset=gnomad_r2_1",
        "id": "1-155106227-A-T",
        "variant": "1:155106227 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155133751-A-T?dataset=gnomad_r3",
        "id": "1-155133751-A-T",
        "variant": "1:155133751 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155133751-A-T?dataset=gnomad_r4",
        "id": "1-155133751-A-T",
        "variant": "1:155133751 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 155133751,
          "referenceAllele": "A",
          "start": 155133750
        }
      ],
      "hgvs": [
        "NC_000001.11:g.155133751A>T",
        "CM000663.2:g.155133751A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 155106227,
          "referenceAllele": "A",
          "start": 155106226
        }
      ],
      "hgvs": [
        "NC_000001.10:g.155106227A>T",
        "CM000663.1:g.155106227A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 153372851,
          "referenceAllele": "A",
          "start": 153372850
        }
      ],
      "hgvs": [
        "NC_000001.9:g.153372851A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "referenceAllele": "A",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003221",
      "geneNCBI_id": 1942,
      "geneSymbol": "EFNA1",
      "hgvs": [
        "ENST00000368407.8:c.476A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357392.3:p.Asp159Val",
        "hgvsWellDefined": "ENSP00000357392.3:p.Asp159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750202",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368407.8:c.476A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004428.3:c.476A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357392.3:p.Asp159Val"
          },
          "RefSeq": {
            "hgvs": "NP_004419.2:p.Asp159Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "A",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003221",
      "geneNCBI_id": 1942,
      "geneSymbol": "EFNA1",
      "hgvs": [
        "ENST00000368406.2:c.410A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357391.2:p.Asp137Val",
        "hgvsWellDefined": "ENSP00000357391.2:p.Asp137Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 994,
          "referenceAllele": "A",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003221",
      "geneNCBI_id": 1942,
      "geneSymbol": "EFNA1",
      "hgvs": [
        "ENST00000368407.7:c.476A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357392.3:p.Asp159Val",
        "hgvsWellDefined": "ENSP00000357392.3:p.Asp159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "referenceAllele": "A",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003221",
      "geneNCBI_id": 1942,
      "geneSymbol": "EFNA1",
      "hgvs": [
        "ENST00000469878.5:n.727A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 701,
          "referenceAllele": "A",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003221",
      "geneNCBI_id": 1942,
      "geneSymbol": "EFNA1",
      "hgvs": [
        "ENST00000474413.5:n.701A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "referenceAllele": "A",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003221",
      "geneNCBI_id": 1942,
      "geneSymbol": "EFNA1",
      "hgvs": [
        "ENST00000497282.1:n.519A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499267817",
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "A",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003221",
      "geneNCBI_id": 1942,
      "geneSymbol": "EFNA1",
      "hgvs": [
        "NM_004428.2:c.476A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004419.2:p.Asp159Val",
        "hgvsWellDefined": "NP_004419.2:p.Asp159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029589"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830416102",
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "A",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003221",
      "geneNCBI_id": 1942,
      "geneSymbol": "EFNA1",
      "hgvs": [
        "NM_182685.1:c.410A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_872626.1:p.Asp137Val",
        "hgvsWellDefined": "NP_872626.1:p.Asp137Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 908,
          "referenceAllele": "A",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003221",
      "geneNCBI_id": 1942,
      "geneSymbol": "EFNA1",
      "hgvs": [
        "XM_005244940.3:c.287A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005244997.1:p.Asp96Val",
        "hgvsWellDefined": "XP_005244997.1:p.Asp96Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499267817",
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "referenceAllele": "A",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003221",
      "geneNCBI_id": 1942,
      "geneSymbol": "EFNA1",
      "hgvs": [
        "NM_004428.3:c.476A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004419.2:p.Asp159Val",
        "hgvsWellDefined": "NP_004419.2:p.Asp159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666478",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368407.8:c.476A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004428.3:c.476A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357392.3:p.Asp159Val"
          },
          "RefSeq": {
            "hgvs": "NP_004419.2:p.Asp159Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830416102",
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "A",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003221",
      "geneNCBI_id": 1942,
      "geneSymbol": "EFNA1",
      "hgvs": [
        "NM_182685.2:c.410A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_872626.1:p.Asp137Val",
        "hgvsWellDefined": "NP_872626.1:p.Asp137Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701094"
    }
  ],
  "type": "nucleotide"
}