{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382896342",
  "communityStandardTitle": [
    "NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=639760[alleleid]",
        "alleleId": 639760,
        "preferredName": "NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/663384",
        "RCV": [
          "RCV000821250",
          "RCV001579263",
          "RCV002275158"
        ],
        "variationId": 663384
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118896020C>T?assembly=hg19",
        "id": "chr11:g.118896020C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119025310C>T?assembly=hg38",
        "id": "chr11:g.119025310C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1326123837",
        "rs": 1326123837
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118896020-C-T?dataset=gnomad_r2_1",
        "id": "11-118896020-C-T",
        "variant": "11:118896020 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119025310-C-T?dataset=gnomad_r3",
        "id": "11-119025310-C-T",
        "variant": "11:119025310 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119025310-C-T?dataset=gnomad_r4",
        "id": "11-119025310-C-T",
        "variant": "11:119025310 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 119025310,
          "referenceAllele": "C",
          "start": 119025309
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119025310C>T",
        "CM000673.2:g.119025310C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118896020,
          "referenceAllele": "C",
          "start": 118896019
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118896020C>T",
        "CM000673.1:g.118896020C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118401230,
          "referenceAllele": "C",
          "start": 118401229
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118401230C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10596,
          "referenceAllele": "G",
          "start": 10595
        }
      ],
      "hgvs": [
        "NG_013331.1:g.10596G>A",
        "LRG_187:g.10596G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002786"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1214,
          "referenceAllele": "G",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000529510.6:n.1214G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2203,
          "referenceAllele": "G",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697845.1:n.2203G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1576,
          "referenceAllele": "G",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697846.1:n.1576G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1287,
          "referenceAllele": "G",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697847.1:n.1287G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3680,
          "referenceAllele": "G",
          "start": 3679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697849.1:n.3680G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1871,
          "referenceAllele": "G",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697850.1:n.1871G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697851.1:n.2842G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1308,
          "referenceAllele": "G",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638186.1:n.1308G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1140,
          "referenceAllele": "G",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638360.1:n.1140G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1273,
          "referenceAllele": "G",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638925.1:n.1273G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1476,
          "referenceAllele": "G",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000650539.1:n.1476G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1257,
          "referenceAllele": "G",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000330775.9:c.1004G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476242.2:p.Gly335Glu",
        "hgvsWellDefined": "ENSP00000476242.2:p.Gly335Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1511,
          "referenceAllele": "G",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000357590.9:c.1070G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476176.2:p.Gly357Glu",
        "hgvsWellDefined": "ENSP00000476176.2:p.Gly357Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1240,
          "referenceAllele": "G",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000524428.5:n.1240G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1494,
          "referenceAllele": "G",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525039.5:n.1494G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1762,
          "referenceAllele": "G",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525102.5:n.1762G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1102,
          "referenceAllele": "G",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525372.5:n.1102G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1786,
          "referenceAllele": "G",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000526275.5:n.1786G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
          "referenceAllele": "G",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000527992.5:n.1232G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 692,
          "referenceAllele": "G",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000529510.5:n.692G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1154,
          "referenceAllele": "G",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000530407.5:n.1154G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5022,
          "referenceAllele": "G",
          "start": 5021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000532085.1:n.5022G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019943",
      "geneNCBI_id": 51399,
      "geneSymbol": "TRAPPC4",
      "hgvs": [
        "ENST00000533058.5:c.*261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432920.1:n.*261C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000538950.5:c.785G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475991.2:p.Gly262Glu",
        "hgvsWellDefined": "ENSP00000475991.2:p.Gly262Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "referenceAllele": "G",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000545985.5:c.1004G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475241.2:p.Gly335Glu",
        "hgvsWellDefined": "ENSP00000475241.2:p.Gly335Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825971350",
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "referenceAllele": "G",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164277.1:c.1004G>A",
        "LRG_187t1:c.1004G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157749.1:p.Gly335Glu",
        "hgvsWellDefined": "NP_001157749.1:p.Gly335Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915988038",
      "coordinates": [
        {
          "allele": "A",
          "end": 1511,
          "referenceAllele": "G",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164278.1:c.1070G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157750.1:p.Gly357Glu",
        "hgvsWellDefined": "NP_001157750.1:p.Gly357Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972216",
      "coordinates": [
        {
          "allele": "A",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.1:c.785G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:p.Gly262Glu",
        "hgvsWellDefined": "NP_001157751.1:p.Gly262Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972799",
      "coordinates": [
        {
          "allele": "A",
          "end": 1203,
          "referenceAllele": "G",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.1:c.1004G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:p.Gly335Glu",
        "hgvsWellDefined": "NP_001157752.1:p.Gly335Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829335269",
      "coordinates": [
        {
          "allele": "A",
          "end": 1257,
          "referenceAllele": "G",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.5:c.1004G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:p.Gly335Glu",
        "hgvsWellDefined": "NP_001458.1:p.Gly335Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915988038",
      "coordinates": [
        {
          "allele": "A",
          "end": 1482,
          "referenceAllele": "G",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164278.2:c.1070G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157750.1:p.Gly357Glu",
        "hgvsWellDefined": "NP_001157750.1:p.Gly357Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972216",
      "coordinates": [
        {
          "allele": "A",
          "end": 1158,
          "referenceAllele": "G",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.2:c.785G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:p.Gly262Glu",
        "hgvsWellDefined": "NP_001157751.1:p.Gly262Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972799",
      "coordinates": [
        {
          "allele": "A",
          "end": 1115,
          "referenceAllele": "G",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.2:c.1004G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:p.Gly335Glu",
        "hgvsWellDefined": "NP_001157752.1:p.Gly335Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829335269",
      "coordinates": [
        {
          "allele": "A",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.6:c.1004G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:p.Gly335Glu",
        "hgvsWellDefined": "NP_001458.1:p.Gly335Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825971350",
      "coordinates": [
        {
          "allele": "A",
          "end": 1732,
          "referenceAllele": "G",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164277.2:c.1004G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157749.1:p.Gly335Glu",
        "hgvsWellDefined": "NP_001157749.1:p.Gly335Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713070",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642844.3:c.1004G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001164277.2:c.1004G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493469.1:p.Gly335Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001157749.1:p.Gly335Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}