{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356878731",
  "communityStandardTitle": [
    "NM_000232.5(SGCB):c.1A>T (p.Met1Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1170207[alleleid]",
        "alleleId": 1170207,
        "preferredName": "NM_000232.5(SGCB):c.1A>T (p.Met1Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1180805",
        "RCV": [
          "RCV001814534"
        ],
        "variationId": 1180805
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.52904425T>A?assembly=hg19",
        "id": "chr4:g.52904425T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.52038259T>A?assembly=hg38",
        "id": "chr4:g.52038259T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398123262",
        "rs": 398123262
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-52038259-T-A?dataset=gnomad_r4",
        "id": "4-52038259-T-A",
        "variant": "4:52038259 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 52038259,
          "referenceAllele": "T",
          "start": 52038258
        }
      ],
      "hgvs": [
        "NC_000004.12:g.52038259T>A",
        "CM000666.2:g.52038259T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 52904425,
          "referenceAllele": "T",
          "start": 52904424
        }
      ],
      "hgvs": [
        "NC_000004.11:g.52904425T>A",
        "CM000666.1:g.52904425T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 52599182,
          "referenceAllele": "T",
          "start": 52599181
        }
      ],
      "hgvs": [
        "NC_000004.10:g.52599182T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5061,
          "referenceAllele": "A",
          "start": 5060
        }
      ],
      "hgvs": [
        "NG_008891.1:g.5061A>T",
        "LRG_204:g.5061A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001284"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 41,
          "referenceAllele": "A",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010806",
      "geneNCBI_id": 6443,
      "geneSymbol": "SGCB",
      "hgvs": [
        "ENST00000381431.10:c.1A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370839.6:p.Met1Leu",
        "hgvsWellDefined": "ENSP00000370839.6:p.Met1Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381431.10:c.1A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000232.5:c.1A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370839.6:p.Met1Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000223.1:p.Met1Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "referenceAllele": "A",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010806",
      "geneNCBI_id": 6443,
      "geneSymbol": "SGCB",
      "hgvs": [
        "ENST00000381431.9:c.1A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370839.5:p.Met1Leu",
        "hgvsWellDefined": "ENSP00000370839.5:p.Met1Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273358"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573061869",
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "referenceAllele": "A",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010806",
      "geneNCBI_id": 6443,
      "geneSymbol": "SGCB",
      "hgvs": [
        "NM_000232.4:c.1A>T",
        "LRG_204t1:c.1A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000223.1:p.Met1Leu",
        "hgvsWellDefined": "NP_000223.1:p.Met1Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 40,
          "referenceAllele": "A",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010806",
      "geneNCBI_id": 6443,
      "geneSymbol": "SGCB",
      "hgvs": [
        "XM_011534403.1:c.1A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532705.1:p.Met1Leu",
        "hgvsWellDefined": "XP_011532705.1:p.Met1Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573061869",
      "coordinates": [
        {
          "allele": "T",
          "end": 41,
          "referenceAllele": "A",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010806",
      "geneNCBI_id": 6443,
      "geneSymbol": "SGCB",
      "hgvs": [
        "NM_000232.5:c.1A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000223.1:p.Met1Leu",
        "hgvsWellDefined": "NP_000223.1:p.Met1Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381431.10:c.1A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000232.5:c.1A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370839.6:p.Met1Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000223.1:p.Met1Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}