{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397795561",
  "communityStandardTitle": [
    "NM_001370549.1(SLC16A11):c.308A>T (p.Asp103Val)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.6946287T>A?assembly=hg19",
        "id": "chr17:g.6946287T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7042968T>A?assembly=hg38",
        "id": "chr17:g.7042968T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/13342692",
        "rs": 13342692
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7042968-T-A?dataset=gnomad_r4",
        "id": "17-7042968-T-A",
        "variant": "17:7042968 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7042968,
          "referenceAllele": "T",
          "start": 7042967
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7042968T>A",
        "CM000679.2:g.7042968T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 6946287,
          "referenceAllele": "T",
          "start": 6946286
        }
      ],
      "hgvs": [
        "NC_000017.10:g.6946287T>A",
        "CM000679.1:g.6946287T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 6887011,
          "referenceAllele": "T",
          "start": 6887010
        }
      ],
      "hgvs": [
        "NC_000017.9:g.6887011T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "A",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "ENST00000574600.3:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460927.2:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000460927.2:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760744",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000574600.3:c.308A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370549.1:c.308A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000460927.2:p.Asp103Val"
          },
          "RefSeq": {
            "hgvs": "NP_001357478.1:p.Asp103Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "A",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "ENST00000662352.3:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499634.1:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000499634.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "A",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "ENST00000673828.2:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501313.1:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000501313.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "A",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "ENST00000308009.5:c.380A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310490.1:p.Asp127Val",
        "hgvsWellDefined": "ENSP00000310490.1:p.Asp127Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "A",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "ENST00000447225.1:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394449.1:p.Asp103Val",
        "hgvsWellDefined": "ENSP00000394449.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 639,
          "referenceAllele": "A",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "ENST00000573338.1:n.639A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "A",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "NM_153357.1:c.380A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_699188.1:p.Asp127Val",
        "hgvsWellDefined": "NP_699188.1:p.Asp127Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "A",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "XM_005256488.2:c.665A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256545.2:p.Asp222Val",
        "hgvsWellDefined": "XP_005256545.2:p.Asp222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "A",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "XM_011523696.1:c.665A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521998.1:p.Asp222Val",
        "hgvsWellDefined": "XP_011521998.1:p.Asp222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 951,
          "referenceAllele": "A",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "XM_005256488.4:c.665A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256545.2:p.Asp222Val",
        "hgvsWellDefined": "XP_005256545.2:p.Asp222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 951,
          "referenceAllele": "A",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "XM_017024281.1:c.665A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879770.1:p.Asp222Val",
        "hgvsWellDefined": "XP_016879770.1:p.Asp222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 951,
          "referenceAllele": "A",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "XM_017024282.2:c.665A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879771.1:p.Asp222Val",
        "hgvsWellDefined": "XP_016879771.1:p.Asp222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083956746",
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "A",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "NM_153357.2:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_699188.2:p.Asp103Val",
        "hgvsWellDefined": "NP_699188.2:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "A",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "NM_001370549.1:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357478.1:p.Asp103Val",
        "hgvsWellDefined": "NP_001357478.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000574600.3:c.308A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370549.1:c.308A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000460927.2:p.Asp103Val"
          },
          "RefSeq": {
            "hgvs": "NP_001357478.1:p.Asp103Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "A",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "NM_001370553.1:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357482.1:p.Asp103Val",
        "hgvsWellDefined": "NP_001357482.1:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083956746",
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "A",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023093",
      "geneNCBI_id": 162515,
      "geneSymbol": "SLC16A11",
      "hgvs": [
        "NM_153357.3:c.308A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_699188.2:p.Asp103Val",
        "hgvsWellDefined": "NP_699188.2:p.Asp103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700354"
    }
  ],
  "type": "nucleotide"
}