{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114233",
  "communityStandardTitle": [
    "NM_000405.5(GM2A):c.412T>C (p.Cys138Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15429[alleleid]",
        "alleleId": 15429,
        "preferredName": "NM_000405.5(GM2A):c.412T>C (p.Cys138Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/390",
        "RCV": [
          "RCV000000421"
        ],
        "variationId": 390
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.150646460T>C?assembly=hg19",
        "id": "chr5:g.150646460T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.151266899T>C?assembly=hg38",
        "id": "chr5:g.151266899T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852797",
        "rs": 137852797
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-150646460-T-C?dataset=gnomad_r2_1",
        "id": "5-150646460-T-C",
        "variant": "5:150646460 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-151266899-T-C?dataset=gnomad_r3",
        "id": "5-151266899-T-C",
        "variant": "5:151266899 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-151266899-T-C?dataset=gnomad_r4",
        "id": "5-151266899-T-C",
        "variant": "5:151266899 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 151266899,
          "referenceAllele": "T",
          "start": 151266898
        }
      ],
      "hgvs": [
        "NC_000005.10:g.151266899T>C",
        "CM000667.2:g.151266899T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 150646460,
          "referenceAllele": "T",
          "start": 150646459
        }
      ],
      "hgvs": [
        "NC_000005.9:g.150646460T>C",
        "CM000667.1:g.150646460T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 150626653,
          "referenceAllele": "T",
          "start": 150626652
        }
      ],
      "hgvs": [
        "NC_000005.8:g.150626653T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18848,
          "referenceAllele": "T",
          "start": 18847
        }
      ],
      "hgvs": [
        "NG_009059.1:g.18848T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001401"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "referenceAllele": "T",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "ENST00000357164.4:c.412T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349687.3:p.Cys138Arg",
        "hgvsWellDefined": "ENSP00000349687.3:p.Cys138Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748900",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357164.4:c.412T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000405.5:c.412T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349687.3:p.Cys138Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000396.2:p.Cys138Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 737,
          "referenceAllele": "T",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "ENST00000357164.3:c.412T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349687.3:p.Cys138Arg",
        "hgvsWellDefined": "ENSP00000349687.3:p.Cys138Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 287,
          "referenceAllele": "T",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "ENST00000523004.1:c.287T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS349486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104747",
      "coordinates": [
        {
          "allele": "C",
          "end": 577,
          "referenceAllele": "T",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "NM_000405.4:c.412T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000396.2:p.Cys138Arg",
        "hgvsWellDefined": "NP_000396.2:p.Cys138Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114234",
      "coordinates": [
        {
          "allele": "C",
          "end": 577,
          "referenceAllele": "T",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "NM_001167607.1:c.412T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161079.1:p.Cys138Arg",
        "hgvsWellDefined": "NP_001161079.1:p.Cys138Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014968"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104747",
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "referenceAllele": "T",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "NM_000405.5:c.412T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000396.2:p.Cys138Arg",
        "hgvsWellDefined": "NP_000396.2:p.Cys138Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674829",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357164.4:c.412T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000405.5:c.412T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349687.3:p.Cys138Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000396.2:p.Cys138Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA114234",
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "referenceAllele": "T",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "NM_001167607.2:c.412T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161079.1:p.Cys138Arg",
        "hgvsWellDefined": "NP_001161079.1:p.Cys138Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114234",
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "referenceAllele": "T",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "NM_001167607.3:c.412T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161079.1:p.Cys138Arg",
        "hgvsWellDefined": "NP_001161079.1:p.Cys138Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713240"
    }
  ],
  "type": "nucleotide"
}