{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA362829601",
  "communityStandardTitle": [
    "NM_198586.3(NHLRC1):c.76T>G (p.Cys26Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2850615[alleleid]",
        "alleleId": 2850615,
        "preferredName": "NM_198586.3(NHLRC1):c.76T>G (p.Cys26Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2689580",
        "RCV": [
          "RCV003486162"
        ],
        "variationId": 2689580
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.18122762A>C?assembly=hg19",
        "id": "chr6:g.18122762A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.18122531A>C?assembly=hg38",
        "id": "chr6:g.18122531A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28940575",
        "rs": 28940575
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 18122531,
          "referenceAllele": "A",
          "start": 18122530
        }
      ],
      "hgvs": [
        "NC_000006.12:g.18122531A>C",
        "CM000668.2:g.18122531A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 18122762,
          "referenceAllele": "A",
          "start": 18122761
        }
      ],
      "hgvs": [
        "NC_000006.11:g.18122762A>C",
        "CM000668.1:g.18122762A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 18230741,
          "referenceAllele": "A",
          "start": 18230740
        }
      ],
      "hgvs": [
        "NC_000006.10:g.18230741A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5090,
          "referenceAllele": "T",
          "start": 5089
        }
      ],
      "hgvs": [
        "NG_016750.1:g.5090T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003275"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 147,
          "referenceAllele": "T",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021576",
      "geneNCBI_id": 378884,
      "geneSymbol": "NHLRC1",
      "hgvs": [
        "ENST00000340650.6:c.76T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345464.3:p.Cys26Gly",
        "hgvsWellDefined": "ENSP00000345464.3:p.Cys26Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340650.6:c.76T>G"
          },
          "RefSeq": {
            "hgvs": "NM_198586.3:c.76T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345464.3:p.Cys26Gly"
          },
          "RefSeq": {
            "hgvs": "NP_940988.2:p.Cys26Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76,
          "referenceAllele": "T",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021576",
      "geneNCBI_id": 378884,
      "geneSymbol": "NHLRC1",
      "hgvs": [
        "ENST00000340650.4:c.76T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345464.3:p.Cys26Gly",
        "hgvsWellDefined": "ENSP00000345464.3:p.Cys26Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261142"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742028429",
      "coordinates": [
        {
          "allele": "G",
          "end": 90,
          "referenceAllele": "T",
          "start": 89
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021576",
      "geneNCBI_id": 378884,
      "geneSymbol": "NHLRC1",
      "hgvs": [
        "NM_198586.2:c.76T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_940988.2:p.Cys26Gly",
        "hgvsWellDefined": "NP_940988.2:p.Cys26Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742028429",
      "coordinates": [
        {
          "allele": "G",
          "end": 147,
          "referenceAllele": "T",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021576",
      "geneNCBI_id": 378884,
      "geneSymbol": "NHLRC1",
      "hgvs": [
        "NM_198586.3:c.76T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_940988.2:p.Cys26Gly",
        "hgvsWellDefined": "NP_940988.2:p.Cys26Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340650.6:c.76T>G"
          },
          "RefSeq": {
            "hgvs": "NM_198586.3:c.76T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345464.3:p.Cys26Gly"
          },
          "RefSeq": {
            "hgvs": "NP_940988.2:p.Cys26Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}