{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2695198782",
  "communityStandardTitle": [
    "NM_000405.5(GM2A):c.427-14T>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2831808[alleleid]",
        "alleleId": 2831808,
        "preferredName": "NM_000405.5(GM2A):c.427-14T>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2664353",
        "RCV": [
          "RCV003445451"
        ],
        "variationId": 2664353
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2531757415",
        "rs": 2531757415
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 151267282,
          "referenceAllele": "T",
          "start": 151267281
        }
      ],
      "hgvs": [
        "NC_000005.10:g.151267282T>A",
        "CM000667.2:g.151267282T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 150646843,
          "referenceAllele": "T",
          "start": 150646842
        }
      ],
      "hgvs": [
        "NC_000005.9:g.150646843T>A",
        "CM000667.1:g.150646843T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 150627036,
          "referenceAllele": "T",
          "start": 150627035
        }
      ],
      "hgvs": [
        "NC_000005.8:g.150627036T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19231,
          "referenceAllele": "T",
          "start": 19230
        }
      ],
      "hgvs": [
        "NG_009059.1:g.19231T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001401"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 458,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "T",
          "start": 458,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "ENST00000357164.4:c.427-14T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349687.3:n.427-14T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748900",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357164.4:c.427-14T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000405.5:c.427-14T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349687.3:n.427-14T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000396.2:n.427-14T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "T",
          "start": 751,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "ENST00000357164.3:c.427-14T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349687.3:n.427-14T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "NM_000405.4:c.427-14T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000396.2:n.427-14T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 577,
          "endIntronDirection": "-",
          "endIntronOffset": 209,
          "referenceAllele": "T",
          "start": 577,
          "startIntronDirection": "-",
          "startIntronOffset": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "NM_001167607.1:c.413-210T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161079.1:n.413-210T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 458,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "T",
          "start": 458,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "NM_000405.5:c.427-14T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000396.2:n.427-14T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674829",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357164.4:c.427-14T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000405.5:c.427-14T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349687.3:n.427-14T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000396.2:n.427-14T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 444,
          "endIntronDirection": "-",
          "endIntronOffset": 209,
          "referenceAllele": "T",
          "start": 444,
          "startIntronDirection": "-",
          "startIntronOffset": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "NM_001167607.2:c.413-210T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161079.1:n.413-210T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 444,
          "endIntronDirection": "-",
          "endIntronOffset": 209,
          "referenceAllele": "T",
          "start": 444,
          "startIntronDirection": "-",
          "startIntronOffset": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "NM_001167607.3:c.413-210T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161079.1:n.413-210T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713240"
    }
  ],
  "type": "nucleotide"
}