{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8052821",
  "communityStandardTitle": [
    "NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=255786[alleleid]",
        "alleleId": 255786,
        "preferredName": "NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/258871",
        "RCV": [
          "RCV000242039",
          "RCV000349793",
          "RCV001520813",
          "RCV001640526"
        ],
        "variationId": 258871
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-51171175-C-T",
        "id": "16-51171175-C-T",
        "variant": "16:51171175 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.51171175C>T?assembly=hg19",
        "id": "chr16:g.51171175C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.51137264C>T?assembly=hg38",
        "id": "chr16:g.51137264C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4614723",
        "rs": 4614723
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-51171175-C-T?dataset=gnomad_r2_1",
        "id": "16-51171175-C-T",
        "variant": "16:51171175 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-51137264-C-T?dataset=gnomad_r3",
        "id": "16-51137264-C-T",
        "variant": "16:51137264 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-51137264-C-T?dataset=gnomad_r4",
        "id": "16-51137264-C-T",
        "variant": "16:51137264 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 51137264,
          "referenceAllele": "C",
          "start": 51137263
        }
      ],
      "hgvs": [
        "NC_000016.10:g.51137264C>T",
        "CM000678.2:g.51137264C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 51171175,
          "referenceAllele": "C",
          "start": 51171174
        }
      ],
      "hgvs": [
        "NC_000016.9:g.51171175C>T",
        "CM000678.1:g.51171175C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 49728676,
          "referenceAllele": "C",
          "start": 49728675
        }
      ],
      "hgvs": [
        "NC_000016.8:g.49728676C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19009,
          "referenceAllele": "G",
          "start": 19008
        }
      ],
      "hgvs": [
        "NG_007990.1:g.19009G>A",
        "LRG_674:g.19009G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000757"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3877,
          "referenceAllele": "G",
          "start": 3876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000440970.6:c.3823G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407914.2:p.Val1275Ile",
        "hgvsWellDefined": "ENSP00000407914.2:p.Val1275Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3964,
          "referenceAllele": "G",
          "start": 3963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000570206.2:c.3532G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456777.2:p.Val1178Ile",
        "hgvsWellDefined": "ENSP00000456777.2:p.Val1178Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3955,
          "referenceAllele": "G",
          "start": 3954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000685868.1:c.3823G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509873.1:p.Val1275Ile",
        "hgvsWellDefined": "ENSP00000509873.1:p.Val1275Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3852,
          "referenceAllele": "G",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000251020.9:c.3823G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251020.4:p.Val1275Ile",
        "hgvsWellDefined": "ENSP00000251020.4:p.Val1275Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251020.9:c.3823G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002968.3:c.3823G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251020.4:p.Val1275Ile"
          },
          "RefSeq": {
            "hgvs": "NP_002959.2:p.Val1275Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3857,
          "referenceAllele": "G",
          "start": 3856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000251020.8:c.3823G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251020.4:p.Val1275Ile",
        "hgvsWellDefined": "ENSP00000251020.4:p.Val1275Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3964,
          "referenceAllele": "G",
          "start": 3963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000440970.5:c.3532G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407914.1:p.Val1178Ile",
        "hgvsWellDefined": "ENSP00000407914.1:p.Val1178Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 365,
          "referenceAllele": "G",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "ENST00000566102.1:c.365G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455582.1:n.365G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379191"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825661279",
      "coordinates": [
        {
          "allele": "A",
          "end": 3964,
          "referenceAllele": "G",
          "start": 3963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "NM_001127892.1:c.3532G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121364.1:p.Val1178Ile",
        "hgvsWellDefined": "NP_001121364.1:p.Val1178Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645479934",
      "coordinates": [
        {
          "allele": "A",
          "end": 3854,
          "referenceAllele": "G",
          "start": 3853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "NM_002968.2:c.3823G>A",
        "LRG_674t1:c.3823G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002959.2:p.Val1275Ile",
        "hgvsWellDefined": "NP_002959.2:p.Val1275Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3859,
          "referenceAllele": "G",
          "start": 3858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "XM_006721241.2:c.3823G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721304.1:p.Val1275Ile",
        "hgvsWellDefined": "XP_006721304.1:p.Val1275Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3859,
          "referenceAllele": "G",
          "start": 3858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "XM_011523254.1:c.3823G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521556.1:p.Val1275Ile",
        "hgvsWellDefined": "XP_011521556.1:p.Val1275Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3867,
          "referenceAllele": "G",
          "start": 3866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "XM_011523255.1:c.3823G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521557.1:p.Val1275Ile",
        "hgvsWellDefined": "XP_011521557.1:p.Val1275Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645479934",
      "coordinates": [
        {
          "allele": "A",
          "end": 3852,
          "referenceAllele": "G",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "NM_002968.3:c.3823G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002959.2:p.Val1275Ile",
        "hgvsWellDefined": "NP_002959.2:p.Val1275Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695692",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251020.9:c.3823G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002968.3:c.3823G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251020.4:p.Val1275Ile"
          },
          "RefSeq": {
            "hgvs": "NP_002959.2:p.Val1275Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825661279",
      "coordinates": [
        {
          "allele": "A",
          "end": 3964,
          "referenceAllele": "G",
          "start": 3963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "NM_001127892.2:c.3532G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121364.1:p.Val1178Ile",
        "hgvsWellDefined": "NP_001121364.1:p.Val1178Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712234"
    }
  ],
  "type": "nucleotide"
}