{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA220715",
  "communityStandardTitle": [
    "NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18720[alleleid]",
        "alleleId": 18720,
        "preferredName": "NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3681",
        "RCV": [
          "RCV000003866",
          "RCV000078697",
          "RCV003904802"
        ],
        "variationId": 3681
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-24122673-C-T",
        "id": "1-24122673-C-T",
        "variant": "1:24122673 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.24122673C>T?assembly=hg19",
        "id": "chr1:g.24122673C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.23796183C>T?assembly=hg38",
        "id": "chr1:g.23796183C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28940885",
        "rs": 28940885
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-24122673-C-T?dataset=gnomad_r2_1",
        "id": "1-24122673-C-T",
        "variant": "1:24122673 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-23796183-C-T?dataset=gnomad_r3",
        "id": "1-23796183-C-T",
        "variant": "1:23796183 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-23796183-C-T?dataset=gnomad_r4",
        "id": "1-23796183-C-T",
        "variant": "1:23796183 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 23796183,
          "referenceAllele": "C",
          "start": 23796182
        }
      ],
      "hgvs": [
        "NC_000001.11:g.23796183C>T",
        "CM000663.2:g.23796183C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 24122673,
          "referenceAllele": "C",
          "start": 24122672
        }
      ],
      "hgvs": [
        "NC_000001.10:g.24122673C>T",
        "CM000663.1:g.24122673C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 23995260,
          "referenceAllele": "C",
          "start": 23995259
        }
      ],
      "hgvs": [
        "NC_000001.9:g.23995260C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9622,
          "referenceAllele": "G",
          "start": 9621
        }
      ],
      "hgvs": [
        "NG_007068.1:g.9622G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000448"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1075,
          "referenceAllele": "G",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000617979.5:c.956G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483375.1:p.Gly319Glu",
        "hgvsWellDefined": "ENSP00000483375.1:p.Gly319Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762150",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617979.5:c.956G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001008216.2:c.956G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483375.1:p.Gly319Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001008217.1:p.Gly319Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1048,
          "referenceAllele": "G",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000374497.7:c.956G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363621.3:p.Gly319Glu",
        "hgvsWellDefined": "ENSP00000363621.3:p.Gly319Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 925,
          "referenceAllele": "G",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000429356.5:c.686G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398585.1:p.Gly229Glu",
        "hgvsWellDefined": "ENSP00000398585.1:p.Gly229Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 236,
          "referenceAllele": "G",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000456977.5:c.236G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397045.1:p.Gly79Glu",
        "hgvsWellDefined": "ENSP00000397045.1:p.Gly79Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303732"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "referenceAllele": "G",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000459934.5:n.1184G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 703,
          "referenceAllele": "G",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000469556.1:n.703G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000481736.5:n.1360G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1125,
          "referenceAllele": "G",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000617979.4:c.956G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483375.1:p.Gly319Glu",
        "hgvsWellDefined": "ENSP00000483375.1:p.Gly319Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104684",
      "coordinates": [
        {
          "allele": "A",
          "end": 1190,
          "referenceAllele": "G",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_000403.3:c.956G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000394.2:p.Gly319Glu",
        "hgvsWellDefined": "NP_000394.2:p.Gly319Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA220716",
      "coordinates": [
        {
          "allele": "A",
          "end": 1125,
          "referenceAllele": "G",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_001008216.1:c.956G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008217.1:p.Gly319Glu",
        "hgvsWellDefined": "NP_001008217.1:p.Gly319Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007966"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915967423",
      "coordinates": [
        {
          "allele": "A",
          "end": 1166,
          "referenceAllele": "G",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_001127621.1:c.956G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121093.1:p.Gly319Glu",
        "hgvsWellDefined": "NP_001121093.1:p.Gly319Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA220716",
      "coordinates": [
        {
          "allele": "A",
          "end": 1075,
          "referenceAllele": "G",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_001008216.2:c.956G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008217.1:p.Gly319Glu",
        "hgvsWellDefined": "NP_001008217.1:p.Gly319Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617979.5:c.956G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001008216.2:c.956G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483375.1:p.Gly319Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001008217.1:p.Gly319Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA104684",
      "coordinates": [
        {
          "allele": "A",
          "end": 1224,
          "referenceAllele": "G",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_000403.4:c.956G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000394.2:p.Gly319Glu",
        "hgvsWellDefined": "NP_000394.2:p.Gly319Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674828"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915967423",
      "coordinates": [
        {
          "allele": "A",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_001127621.2:c.956G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121093.1:p.Gly319Glu",
        "hgvsWellDefined": "NP_001121093.1:p.Gly319Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676916"
    }
  ],
  "type": "nucleotide"
}