{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141580669",
  "communityStandardTitle": [
    "NM_001008216.2(GALE):c.905G= (p.Gly302=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853861",
        "rs": 137853861
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 23796234,
          "referenceAllele": "C",
          "start": 23796233
        }
      ],
      "hgvs": [
        "NC_000001.11:g.23796234C=",
        "CM000663.2:g.23796234C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 24122724,
          "referenceAllele": "C",
          "start": 24122723
        }
      ],
      "hgvs": [
        "NC_000001.10:g.24122724C=",
        "CM000663.1:g.24122724C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 23995311,
          "referenceAllele": "C",
          "start": 23995310
        }
      ],
      "hgvs": [
        "NC_000001.9:g.23995311C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9571,
          "referenceAllele": "G",
          "start": 9570
        }
      ],
      "hgvs": [
        "NG_007068.1:g.9571G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000448"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000617979.5:c.905G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483375.1:p.Gly302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762150",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617979.5:c.905G="
          },
          "RefSeq": {
            "hgvs": "NM_001008216.2:c.905G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483375.1:p.Gly302="
          },
          "RefSeq": {
            "hgvs": "NP_001008217.1:p.Gly302="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000374497.7:c.905G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363621.3:p.Gly302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000429356.5:c.635G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398585.1:p.Gly212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 185,
          "referenceAllele": "G",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000456977.5:c.185G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397045.1:p.Gly62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000459934.5:n.1133G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000469556.1:n.652G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1309,
          "referenceAllele": "G",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000481736.5:n.1309G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321588"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000617979.4:c.905G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483375.1:p.Gly302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916354",
      "coordinates": [
        {
          "allele": "G",
          "end": 1139,
          "referenceAllele": "G",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_000403.3:c.905G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000394.2:p.Gly302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_001008216.1:c.905G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001008217.1:p.Gly302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007966"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "referenceAllele": "G",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_001127621.1:c.905G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121093.1:p.Gly302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011653"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_001008216.2:c.905G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001008217.1:p.Gly302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617979.5:c.905G="
          },
          "RefSeq": {
            "hgvs": "NM_001008216.2:c.905G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483375.1:p.Gly302="
          },
          "RefSeq": {
            "hgvs": "NP_001008217.1:p.Gly302="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916354",
      "coordinates": [
        {
          "allele": "G",
          "end": 1173,
          "referenceAllele": "G",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_000403.4:c.905G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000394.2:p.Gly302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_001127621.2:c.905G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121093.1:p.Gly302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676916"
    }
  ],
  "type": "nucleotide"
}