{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA360720873", "communityStandardTitle": [ "NM_001182.5(ALDH7A1):c.1483G>A (p.Ala495Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1318648[alleleid]", "alleleId": 1318648, "preferredName": "NM_001182.5(ALDH7A1):c.1483G>A (p.Ala495Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1328029", "RCV": [ "RCV001794978", "RCV003120690" ], "variationId": 1328029 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.125885627C>T?assembly=hg19", "id": "chr5:g.125885627C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.126549935C>T?assembly=hg38", "id": "chr5:g.126549935C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1749930972", "rs": 1749930972 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-126549935-C-T?dataset=gnomad_r4", "id": "5-126549935-C-T", "variant": "5:126549935 C / T" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 126549935, "referenceAllele": "C", "start": 126549934 } ], "hgvs": [ "NC_000005.10:g.126549935C>T", "CM000667.2:g.126549935C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 125885627, "referenceAllele": "C", "start": 125885626 } ], "hgvs": [ "NC_000005.9:g.125885627C>T", "CM000667.1:g.125885627C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 125913526, "referenceAllele": "C", "start": 125913525 } ], "hgvs": [ "NC_000005.8:g.125913526C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 50456, "referenceAllele": "G", "start": 50455 } ], "hgvs": [ "NG_008600.2:g.50456G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001122" }, { "coordinates": [ { "allele": "A", "end": 50456, "referenceAllele": "G", "start": 50455 } ], "hgvs": [ "NG_008600.3:g.50456G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706086" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1504, "referenceAllele": "G", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000409134.8:c.1483G>A" ], "proteinEffect": { "hgvs": "ENSP00000387123.3:p.Ala495Thr", "hgvsWellDefined": "ENSP00000387123.3:p.Ala495Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS754267", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409134.8:c.1483G>A" }, "RefSeq": { "hgvs": "NM_001182.5:c.1483G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387123.3:p.Ala495Thr" }, "RefSeq": { "hgvs": "NP_001173.2:p.Ala495Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 1720, "referenceAllele": "G", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000458249.6:c.*1392G>A" ], "proteinEffect": { "hgvs": "ENSP00000403929.1:n.*1392G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS756631" }, { "coordinates": [ { "allele": "A", "end": 230, "referenceAllele": "G", "start": 229 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000485852.7:n.230G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757518" }, { "coordinates": [ { "allele": "A", "end": 1910, "referenceAllele": "G", "start": 1909 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000497231.7:n.1910G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757859" }, { "coordinates": [ { "allele": "A", "end": 1481, "referenceAllele": "G", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000635851.1:c.1481G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762683" }, { "coordinates": [ { "allele": "A", "end": 1378, "referenceAllele": "G", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636062.1:n.1378G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762845" }, { "coordinates": [ { "allele": "A", "end": 1677, "referenceAllele": "G", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636225.1:c.*1427G>A" ], "proteinEffect": { "hgvs": "ENSP00000490797.1:n.*1427G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762965" }, { "coordinates": [ { "allele": "A", "end": 1248, "referenceAllele": "G", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636286.1:n.1248G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763010" }, { "coordinates": [ { "allele": "A", "end": 1017, "referenceAllele": "G", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636482.1:n.1017G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763148" }, { "coordinates": [ { "allele": "A", "end": 1384, "referenceAllele": "G", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636743.1:c.1363G>A" ], "proteinEffect": { "hgvs": "ENSP00000489725.1:p.Ala455Thr", "hgvsWellDefined": "ENSP00000489725.1:p.Ala455Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS763348" }, { "coordinates": [ { "allele": "A", "end": 1690, "referenceAllele": "G", "start": 1689 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636808.1:c.*1292G>A" ], "proteinEffect": { "hgvs": "ENSP00000490833.1:n.*1292G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763396" }, { "coordinates": [ { "allele": "A", "end": 1643, "referenceAllele": "G", "start": 1642 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636872.1:c.1643G>A" ], "proteinEffect": { "hgvs": "ENSP00000490919.1:n.1643G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763447" }, { "coordinates": [ { "allele": "A", "end": 1549, "referenceAllele": "G", "start": 1548 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636879.1:c.1528G>A" ], "proteinEffect": { "hgvs": "ENSP00000490811.1:p.Ala510Thr", "hgvsWellDefined": "ENSP00000490811.1:p.Ala510Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS763452" }, { "coordinates": [ { "allele": "A", "end": 1309, "referenceAllele": "G", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636886.1:c.1282G>A" ], "proteinEffect": { "hgvs": "ENSP00000490371.1:p.Ala428Thr", "hgvsWellDefined": "ENSP00000490371.1:p.Ala428Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS763458" }, { "coordinates": [ { "allele": "A", "end": 1374, "referenceAllele": "G", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637206.1:c.1303G>A" ], "proteinEffect": { "hgvs": "ENSP00000489895.1:p.Ala435Thr", "hgvsWellDefined": "ENSP00000489895.1:p.Ala435Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS763692" }, { "coordinates": [ { "allele": "A", "end": 1495, "referenceAllele": "G", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637272.1:c.1474G>A" ], "proteinEffect": { "hgvs": "ENSP00000489686.1:p.Ala492Thr", "hgvsWellDefined": "ENSP00000489686.1:p.Ala492Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS763744" }, { "coordinates": [ { "allele": "A", "end": 939, "referenceAllele": "G", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637292.1:c.939G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763760" }, { "coordinates": [ { "allele": "A", "end": 1504, "referenceAllele": "G", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637782.1:c.1483G>A" ], "proteinEffect": { "hgvs": "ENSP00000490024.1:p.Ala495Thr", "hgvsWellDefined": "ENSP00000490024.1:p.Ala495Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764103" }, { "coordinates": [ { "allele": "A", "end": 1592, "referenceAllele": "G", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000638008.1:c.*1327G>A" ], "proteinEffect": { "hgvs": "ENSP00000490400.1:n.*1327G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS764271" }, { "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "G", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000638010.1:n.1429G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764273" }, { "coordinates": [ { "allele": "A", "end": 1703, "referenceAllele": "G", "start": 1702 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000409134.7:c.1483G>A" ], "proteinEffect": { "hgvs": "ENSP00000387123.3:p.Ala495Thr", "hgvsWellDefined": "ENSP00000387123.3:p.Ala495Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS281287" }, { "coordinates": [ { "allele": "A", "end": 1483, "referenceAllele": "G", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000447989.6:c.1372G>A" ], "proteinEffect": { "hgvs": "ENSP00000414132.2:p.Ala458Thr", "hgvsWellDefined": "ENSP00000414132.2:p.Ala458Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS299515" }, { "coordinates": [ { "allele": "A", "end": 441, "referenceAllele": "G", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000476328.1:n.441G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317409" }, { "coordinates": [ { "allele": "A", "end": 230, "referenceAllele": "G", "start": 229 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000485852.6:n.230G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS324788" }, { "coordinates": [ { "allele": "A", "end": 1693, "referenceAllele": "G", "start": 1692 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000497231.6:n.1693G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS333511" }, { "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "G", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000553117.5:c.1291G>A" ], "proteinEffect": { "hgvs": "ENSP00000448593.1:p.Ala431Thr", "hgvsWellDefined": "ENSP00000448593.1:p.Ala431Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS369644" }, { "@id": "http://reg.genome.network/allele/PA2573067113", "coordinates": [ { "allele": "A", "end": 1675, "referenceAllele": "G", "start": 1674 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001182.4:c.1483G>A" ], "proteinEffect": { "hgvs": "NP_001173.2:p.Ala495Thr", "hgvsWellDefined": "NP_001173.2:p.Ala495Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS015905" }, { "@id": "http://reg.genome.network/allele/PA2826253552", "coordinates": [ { "allele": "A", "end": 1675, "referenceAllele": "G", "start": 1674 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001201377.1:c.1399G>A" ], "proteinEffect": { "hgvs": "NP_001188306.1:p.Ala467Thr", "hgvsWellDefined": "NP_001188306.1:p.Ala467Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS017329" }, { "coordinates": [ { "allele": "A", "end": 1483, "referenceAllele": "G", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001202404.1:c.1372G>A" ], "proteinEffect": { "hgvs": "NP_001189333.1:p.Ala458Thr", "hgvsWellDefined": "NP_001189333.1:p.Ala458Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS017389" }, { "coordinates": [ { "allele": "A", "end": 1666, "referenceAllele": "G", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "XM_011543417.1:c.1078G>A" ], "proteinEffect": { "hgvs": "XP_011541719.1:p.Ala360Thr", "hgvsWellDefined": "XP_011541719.1:p.Ala360Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS110339" }, { "coordinates": [ { "allele": "A", "end": 1666, "referenceAllele": "G", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "XM_011543417.2:c.1078G>A" ], "proteinEffect": { "hgvs": "XP_011541719.1:p.Ala360Thr", "hgvsWellDefined": "XP_011541719.1:p.Ala360Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS555214" }, { "@id": "http://reg.genome.network/allele/PA2573067113", "coordinates": [ { "allele": "A", "end": 1504, "referenceAllele": "G", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001182.5:c.1483G>A" ], "proteinEffect": { "hgvs": "NP_001173.2:p.Ala495Thr", "hgvsWellDefined": "NP_001173.2:p.Ala495Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS663920", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409134.8:c.1483G>A" }, "RefSeq": { "hgvs": "NM_001182.5:c.1483G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387123.3:p.Ala495Thr" }, "RefSeq": { "hgvs": "NP_001173.2:p.Ala495Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2826253552", "coordinates": [ { "allele": "A", "end": 1504, "referenceAllele": "G", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001201377.2:c.1399G>A" ], "proteinEffect": { "hgvs": "NP_001188306.1:p.Ala467Thr", "hgvsWellDefined": "NP_001188306.1:p.Ala467Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS679672" }, { "@id": "http://reg.genome.network/allele/PA2826257652", "coordinates": [ { "allele": "A", "end": 1312, "referenceAllele": "G", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001202404.2:c.1291G>A" ], "proteinEffect": { "hgvs": "NP_001189333.2:p.Ala431Thr", "hgvsWellDefined": "NP_001189333.2:p.Ala431Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS679696" } ], "type": "nucleotide" }