{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA361097012",
  "communityStandardTitle": [
    "NM_001964.3(EGR1):c.83C>A (p.Thr28Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.137801533C>A?assembly=hg19",
        "id": "chr5:g.137801533C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.138465844C>A?assembly=hg38",
        "id": "chr5:g.138465844C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/13181973",
        "rs": 13181973
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 138465844,
          "referenceAllele": "C",
          "start": 138465843
        }
      ],
      "hgvs": [
        "NC_000005.10:g.138465844C>A",
        "CM000667.2:g.138465844C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 137801533,
          "referenceAllele": "C",
          "start": 137801532
        }
      ],
      "hgvs": [
        "NC_000005.9:g.137801533C>A",
        "CM000667.1:g.137801533C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 137829432,
          "referenceAllele": "C",
          "start": 137829431
        }
      ],
      "hgvs": [
        "NC_000005.8:g.137829432C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5353,
          "referenceAllele": "C",
          "start": 5352
        }
      ],
      "hgvs": [
        "NG_021374.1:g.5353C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "referenceAllele": "C",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003238",
      "geneNCBI_id": 1958,
      "geneSymbol": "EGR1",
      "hgvs": [
        "ENST00000239938.5:c.83C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000239938.4:p.Thr28Asn",
        "hgvsWellDefined": "ENSP00000239938.4:p.Thr28Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741070",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000239938.5:c.83C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001964.3:c.83C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000239938.4:p.Thr28Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001955.1:p.Thr28Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 355,
          "referenceAllele": "C",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003238",
      "geneNCBI_id": 1958,
      "geneSymbol": "EGR1",
      "hgvs": [
        "ENST00000239938.4:c.83C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000239938.4:p.Thr28Asn",
        "hgvsWellDefined": "ENSP00000239938.4:p.Thr28Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249111"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070935399",
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003238",
      "geneNCBI_id": 1958,
      "geneSymbol": "EGR1",
      "hgvs": [
        "NM_001964.2:c.83C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001955.1:p.Thr28Asn",
        "hgvsWellDefined": "NP_001955.1:p.Thr28Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027290"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070935399",
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "referenceAllele": "C",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003238",
      "geneNCBI_id": 1958,
      "geneSymbol": "EGR1",
      "hgvs": [
        "NM_001964.3:c.83C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001955.1:p.Thr28Asn",
        "hgvsWellDefined": "NP_001955.1:p.Thr28Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665276",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000239938.5:c.83C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001964.3:c.83C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000239938.4:p.Thr28Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001955.1:p.Thr28Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}