{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412851888",
  "communityStandardTitle": [
    "NM_006579.3(EBP):c.283G>A (p.Ala95Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1321088[alleleid]",
        "alleleId": 1321088,
        "preferredName": "NM_006579.3(EBP):c.283G>A (p.Ala95Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1330409",
        "RCV": [
          "RCV001810770",
          "RCV002506834"
        ],
        "variationId": 1330409
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48382442G>A?assembly=hg19",
        "id": "chrX:g.48382442G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48524054G>A?assembly=hg38",
        "id": "chrX:g.48524054G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2147154752",
        "rs": 2147154752
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48524054-G-A?dataset=gnomad_r4",
        "id": "X-48524054-G-A",
        "variant": "X:48524054 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48524054,
          "referenceAllele": "G",
          "start": 48524053
        }
      ],
      "hgvs": [
        "NC_000023.11:g.48524054G>A",
        "CM000685.2:g.48524054G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48382442,
          "referenceAllele": "G",
          "start": 48382441
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48382442G>A",
        "CM000685.1:g.48382442G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48267386,
          "referenceAllele": "G",
          "start": 48267385
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48267386G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7279,
          "referenceAllele": "G",
          "start": 7278
        }
      ],
      "hgvs": [
        "NG_007452.1:g.7279G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000579"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000495186.6:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417052.1:p.Ala95Thr",
        "hgvsWellDefined": "ENSP00000417052.1:p.Ala95Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000495186.6:c.283G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006579.3:c.283G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417052.1:p.Ala95Thr"
          },
          "RefSeq": {
            "hgvs": "NP_006570.1:p.Ala95Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 458,
          "referenceAllele": "G",
          "start": 457
        }
      ],
      "hgvs": [
        "ENST00000651615.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498524.1:p.Ala95Thr",
        "hgvsWellDefined": "ENSP00000498524.1:p.Ala95Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000276096.10:n.241G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS252657"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 455,
          "referenceAllele": "G",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000414061.1:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405832.1:p.Ala95Thr",
        "hgvsWellDefined": "ENSP00000405832.1:p.Ala95Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 516,
          "referenceAllele": "G",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000446158.5:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390031.1:p.Ala95Thr",
        "hgvsWellDefined": "ENSP00000390031.1:p.Ala95Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1106,
          "referenceAllele": "G",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000495186.5:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417052.1:p.Ala95Thr",
        "hgvsWellDefined": "ENSP00000417052.1:p.Ala95Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000498425.1:n.404G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334436"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573088805",
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "NM_006579.2:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006570.1:p.Ala95Thr",
        "hgvsWellDefined": "NP_006570.1:p.Ala95Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031581"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573088805",
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "NM_006579.3:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006570.1:p.Ala95Thr",
        "hgvsWellDefined": "NP_006570.1:p.Ala95Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667528",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000495186.6:c.283G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006579.3:c.283G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417052.1:p.Ala95Thr"
          },
          "RefSeq": {
            "hgvs": "NP_006570.1:p.Ala95Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}