{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA360721124", "communityStandardTitle": [ "NM_001182.5(ALDH7A1):c.1435G>A (p.Gly479Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2065717[alleleid]", "alleleId": 2065717, "preferredName": "NM_001182.5(ALDH7A1):c.1435G>A (p.Gly479Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2019345", "RCV": [ "RCV002847033" ], "variationId": 2019345 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.125885675C>T?assembly=hg19", "id": "chr5:g.125885675C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.126549983C>T?assembly=hg38", "id": "chr5:g.126549983C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2480251886", "rs": 2480251886 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 126549983, "referenceAllele": "C", "start": 126549982 } ], "hgvs": [ "NC_000005.10:g.126549983C>T", "CM000667.2:g.126549983C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 125885675, "referenceAllele": "C", "start": 125885674 } ], "hgvs": [ "NC_000005.9:g.125885675C>T", "CM000667.1:g.125885675C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 125913574, "referenceAllele": "C", "start": 125913573 } ], "hgvs": [ "NC_000005.8:g.125913574C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 50408, "referenceAllele": "G", "start": 50407 } ], "hgvs": [ "NG_008600.2:g.50408G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001122" }, { "coordinates": [ { "allele": "A", "end": 50408, "referenceAllele": "G", "start": 50407 } ], "hgvs": [ "NG_008600.3:g.50408G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706086" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "G", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000409134.8:c.1435G>A" ], "proteinEffect": { "hgvs": "ENSP00000387123.3:p.Gly479Ser", "hgvsWellDefined": "ENSP00000387123.3:p.Gly479Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS754267", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409134.8:c.1435G>A" }, "RefSeq": { "hgvs": "NM_001182.5:c.1435G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387123.3:p.Gly479Ser" }, "RefSeq": { "hgvs": "NP_001173.2:p.Gly479Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 1672, "referenceAllele": "G", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000458249.6:c.*1344G>A" ], "proteinEffect": { "hgvs": "ENSP00000403929.1:n.*1344G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS756631" }, { "coordinates": [ { "allele": "A", "end": 182, "referenceAllele": "G", "start": 181 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000485852.7:n.182G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757518" }, { "coordinates": [ { "allele": "A", "end": 1862, "referenceAllele": "G", "start": 1861 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000497231.7:n.1862G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757859" }, { "coordinates": [ { "allele": "A", "end": 1433, "referenceAllele": "G", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000635851.1:c.1433G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762683" }, { "coordinates": [ { "allele": "A", "end": 1330, "referenceAllele": "G", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636062.1:n.1330G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762845" }, { "coordinates": [ { "allele": "A", "end": 1629, "referenceAllele": "G", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636225.1:c.*1379G>A" ], "proteinEffect": { "hgvs": "ENSP00000490797.1:n.*1379G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762965" }, { "coordinates": [ { "allele": "A", "end": 1200, "referenceAllele": "G", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636286.1:n.1200G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763010" }, { "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "G", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636482.1:n.969G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763148" }, { "coordinates": [ { "allele": "A", "end": 1336, "referenceAllele": "G", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636743.1:c.1315G>A" ], "proteinEffect": { "hgvs": "ENSP00000489725.1:p.Gly439Ser", "hgvsWellDefined": "ENSP00000489725.1:p.Gly439Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS763348" }, { "coordinates": [ { "allele": "A", "end": 1642, "referenceAllele": "G", "start": 1641 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636808.1:c.*1244G>A" ], "proteinEffect": { "hgvs": "ENSP00000490833.1:n.*1244G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763396" }, { "coordinates": [ { "allele": "A", "end": 1595, "referenceAllele": "G", "start": 1594 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636872.1:c.1595G>A" ], "proteinEffect": { "hgvs": "ENSP00000490919.1:n.1595G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763447" }, { "coordinates": [ { "allele": "A", "end": 1501, "referenceAllele": "G", "start": 1500 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636879.1:c.1480G>A" ], "proteinEffect": { "hgvs": "ENSP00000490811.1:p.Gly494Ser", "hgvsWellDefined": "ENSP00000490811.1:p.Gly494Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS763452" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "G", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636886.1:c.1234G>A" ], "proteinEffect": { "hgvs": "ENSP00000490371.1:p.Gly412Ser", "hgvsWellDefined": "ENSP00000490371.1:p.Gly412Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS763458" }, { "coordinates": [ { "allele": "A", "end": 1326, "referenceAllele": "G", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637206.1:c.1255G>A" ], "proteinEffect": { "hgvs": "ENSP00000489895.1:p.Gly419Ser", "hgvsWellDefined": "ENSP00000489895.1:p.Gly419Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS763692" }, { "coordinates": [ { "allele": "A", "end": 1447, "referenceAllele": "G", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637272.1:c.1426G>A" ], "proteinEffect": { "hgvs": "ENSP00000489686.1:p.Gly476Ser", "hgvsWellDefined": "ENSP00000489686.1:p.Gly476Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS763744" }, { "coordinates": [ { "allele": "A", "end": 891, "referenceAllele": "G", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637292.1:c.891G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763760" }, { "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "G", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637782.1:c.1435G>A" ], "proteinEffect": { "hgvs": "ENSP00000490024.1:p.Gly479Ser", "hgvsWellDefined": "ENSP00000490024.1:p.Gly479Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764103" }, { "coordinates": [ { "allele": "A", "end": 1544, "referenceAllele": "G", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000638008.1:c.*1279G>A" ], "proteinEffect": { "hgvs": "ENSP00000490400.1:n.*1279G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS764271" }, { "coordinates": [ { "allele": "A", "end": 1381, "referenceAllele": "G", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000638010.1:n.1381G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764273" }, { "coordinates": [ { "allele": "A", "end": 1655, "referenceAllele": "G", "start": 1654 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000409134.7:c.1435G>A" ], "proteinEffect": { "hgvs": "ENSP00000387123.3:p.Gly479Ser", "hgvsWellDefined": "ENSP00000387123.3:p.Gly479Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS281287" }, { "coordinates": [ { "allele": "A", "end": 1435, "referenceAllele": "G", "start": 1434 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000447989.6:c.1324G>A" ], "proteinEffect": { "hgvs": "ENSP00000414132.2:p.Gly442Ser", "hgvsWellDefined": "ENSP00000414132.2:p.Gly442Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS299515" }, { "coordinates": [ { "allele": "A", "end": 393, "referenceAllele": "G", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000476328.1:n.393G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317409" }, { "coordinates": [ { "allele": "A", "end": 182, "referenceAllele": "G", "start": 181 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000485852.6:n.182G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS324788" }, { "coordinates": [ { "allele": "A", "end": 1645, "referenceAllele": "G", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000497231.6:n.1645G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS333511" }, { "coordinates": [ { "allele": "A", "end": 1381, "referenceAllele": "G", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000553117.5:c.1243G>A" ], "proteinEffect": { "hgvs": "ENSP00000448593.1:p.Gly415Ser", "hgvsWellDefined": "ENSP00000448593.1:p.Gly415Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS369644" }, { "@id": "http://reg.genome.network/allele/PA2580151432", "coordinates": [ { "allele": "A", "end": 1627, "referenceAllele": "G", "start": 1626 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001182.4:c.1435G>A" ], "proteinEffect": { "hgvs": "NP_001173.2:p.Gly479Ser", "hgvsWellDefined": "NP_001173.2:p.Gly479Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS015905" }, { "@id": "http://reg.genome.network/allele/PA2826253532", "coordinates": [ { "allele": "A", "end": 1627, "referenceAllele": "G", "start": 1626 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001201377.1:c.1351G>A" ], "proteinEffect": { "hgvs": "NP_001188306.1:p.Gly451Ser", "hgvsWellDefined": "NP_001188306.1:p.Gly451Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS017329" }, { "coordinates": [ { "allele": "A", "end": 1435, "referenceAllele": "G", "start": 1434 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001202404.1:c.1324G>A" ], "proteinEffect": { "hgvs": "NP_001189333.1:p.Gly442Ser", "hgvsWellDefined": "NP_001189333.1:p.Gly442Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS017389" }, { "coordinates": [ { "allele": "A", "end": 1618, "referenceAllele": "G", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "XM_011543417.1:c.1030G>A" ], "proteinEffect": { "hgvs": "XP_011541719.1:p.Gly344Ser", "hgvsWellDefined": "XP_011541719.1:p.Gly344Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS110339" }, { "coordinates": [ { "allele": "A", "end": 1618, "referenceAllele": "G", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "XM_011543417.2:c.1030G>A" ], "proteinEffect": { "hgvs": "XP_011541719.1:p.Gly344Ser", "hgvsWellDefined": "XP_011541719.1:p.Gly344Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS555214" }, { "@id": "http://reg.genome.network/allele/PA2580151432", "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "G", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001182.5:c.1435G>A" ], "proteinEffect": { "hgvs": "NP_001173.2:p.Gly479Ser", "hgvsWellDefined": "NP_001173.2:p.Gly479Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS663920", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409134.8:c.1435G>A" }, "RefSeq": { "hgvs": "NM_001182.5:c.1435G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387123.3:p.Gly479Ser" }, "RefSeq": { "hgvs": "NP_001173.2:p.Gly479Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2826253532", "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "G", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001201377.2:c.1351G>A" ], "proteinEffect": { "hgvs": "NP_001188306.1:p.Gly451Ser", "hgvsWellDefined": "NP_001188306.1:p.Gly451Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS679672" }, { "@id": "http://reg.genome.network/allele/PA2826257631", "coordinates": [ { "allele": "A", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001202404.2:c.1243G>A" ], "proteinEffect": { "hgvs": "NP_001189333.2:p.Gly415Ser", "hgvsWellDefined": "NP_001189333.2:p.Gly415Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS679696" } ], "type": "nucleotide" }