{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA395881681",
  "communityStandardTitle": [
    "NM_002968.3(SALL1):c.3154C>G (p.Gln1052Glu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.51172979G>C?assembly=hg19",
        "id": "chr16:g.51172979G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.51139068G>C?assembly=hg38",
        "id": "chr16:g.51139068G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518131",
        "rs": 1057518131
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-51139068-G-C?dataset=gnomad_r4",
        "id": "16-51139068-G-C",
        "variant": "16:51139068 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 51139068,
          "referenceAllele": "G",
          "start": 51139067
        }
      ],
      "hgvs": [
        "NC_000016.10:g.51139068G>C",
        "CM000678.2:g.51139068G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 51172979,
          "referenceAllele": "G",
          "start": 51172978
        }
      ],
      "hgvs": [
        "NC_000016.9:g.51172979G>C",
        "CM000678.1:g.51172979G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 49730480,
          "referenceAllele": "G",
          "start": 49730479
        }
      ],
      "hgvs": [
        "NC_000016.8:g.49730480G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17205,
          "referenceAllele": "C",
          "start": 17204
        }
      ],
      "hgvs": [
        "NG_007990.1:g.17205C>G",
        "LRG_674:g.17205C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000757"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3208,
          "referenceAllele": "C",
          "start": 3207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000440970.6:c.3154C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407914.2:p.Gln1052Glu",
        "hgvsWellDefined": "ENSP00000407914.2:p.Gln1052Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3295,
          "referenceAllele": "C",
          "start": 3294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000570206.2:c.2863C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456777.2:p.Gln955Glu",
        "hgvsWellDefined": "ENSP00000456777.2:p.Gln955Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3286,
          "referenceAllele": "C",
          "start": 3285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000685868.1:c.3154C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509873.1:p.Gln1052Glu",
        "hgvsWellDefined": "ENSP00000509873.1:p.Gln1052Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830287"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3154,
          "referenceAllele": "C",
          "start": 3153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000690502.1:c.3154C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510560.1:p.Gln1052Glu",
        "hgvsWellDefined": "ENSP00000510560.1:p.Gln1052Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3183,
          "referenceAllele": "C",
          "start": 3182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000251020.9:c.3154C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251020.4:p.Gln1052Glu",
        "hgvsWellDefined": "ENSP00000251020.4:p.Gln1052Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251020.9:c.3154C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002968.3:c.3154C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251020.4:p.Gln1052Glu"
          },
          "RefSeq": {
            "hgvs": "NP_002959.2:p.Gln1052Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000251020.8:c.3154C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251020.4:p.Gln1052Glu",
        "hgvsWellDefined": "ENSP00000251020.4:p.Gln1052Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3295,
          "referenceAllele": "C",
          "start": 3294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000440970.5:c.2863C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407914.1:p.Gln955Glu",
        "hgvsWellDefined": "ENSP00000407914.1:p.Gln955Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76,
          "endIntronDirection": "-",
          "endIntronOffset": 1515,
          "referenceAllele": "C",
          "start": 76,
          "startIntronDirection": "-",
          "startIntronOffset": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000566102.1:c.77-1516C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455582.1:n.77-1516C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3295,
          "referenceAllele": "C",
          "start": 3294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000570206.1:c.2863C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456777.1:p.Gln955Glu",
        "hgvsWellDefined": "ENSP00000456777.1:p.Gln955Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381979"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3295,
          "referenceAllele": "C",
          "start": 3294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "NM_001127892.1:c.2863C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121364.1:p.Gln955Glu",
        "hgvsWellDefined": "NP_001121364.1:p.Gln955Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083289223",
      "coordinates": [
        {
          "allele": "G",
          "end": 3185,
          "referenceAllele": "C",
          "start": 3184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "NM_002968.2:c.3154C>G",
        "LRG_674t1:c.3154C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002959.2:p.Gln1052Glu",
        "hgvsWellDefined": "NP_002959.2:p.Gln1052Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3190,
          "referenceAllele": "C",
          "start": 3189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "XM_006721241.2:c.3154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721304.1:p.Gln1052Glu",
        "hgvsWellDefined": "XP_006721304.1:p.Gln1052Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3190,
          "referenceAllele": "C",
          "start": 3189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "XM_011523254.1:c.3154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521556.1:p.Gln1052Glu",
        "hgvsWellDefined": "XP_011521556.1:p.Gln1052Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3198,
          "referenceAllele": "C",
          "start": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "XM_011523255.1:c.3154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521557.1:p.Gln1052Glu",
        "hgvsWellDefined": "XP_011521557.1:p.Gln1052Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083289223",
      "coordinates": [
        {
          "allele": "G",
          "end": 3183,
          "referenceAllele": "C",
          "start": 3182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "NM_002968.3:c.3154C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002959.2:p.Gln1052Glu",
        "hgvsWellDefined": "NP_002959.2:p.Gln1052Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695692",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251020.9:c.3154C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002968.3:c.3154C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251020.4:p.Gln1052Glu"
          },
          "RefSeq": {
            "hgvs": "NP_002959.2:p.Gln1052Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3295,
          "referenceAllele": "C",
          "start": 3294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "NM_001127892.2:c.2863C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121364.1:p.Gln955Glu",
        "hgvsWellDefined": "NP_001121364.1:p.Gln955Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712234"
    }
  ],
  "type": "nucleotide"
}