{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA398709977", "communityStandardTitle": [ "NM_000382.3(ALDH3A2):c.1003C>T (p.Pro335Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1163730[alleleid]", "alleleId": 1163730, "preferredName": "NM_000382.3(ALDH3A2):c.1003C>T (p.Pro335Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1174486", "RCV": [ "RCV001528111" ], "variationId": 1174486 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.19566708C>T?assembly=hg19", "id": "chr17:g.19566708C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.19663395C>T?assembly=hg38", "id": "chr17:g.19663395C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2544389390", "rs": 2544389390 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 19663395, "referenceAllele": "C", "start": 19663394 } ], "hgvs": [ "NC_000017.11:g.19663395C>T", "CM000679.2:g.19663395C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 19566708, "referenceAllele": "C", "start": 19566707 } ], "hgvs": [ "NC_000017.10:g.19566708C>T", "CM000679.1:g.19566708C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 19507300, "referenceAllele": "C", "start": 19507299 } ], "hgvs": [ "NC_000017.9:g.19507300C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 19645, "referenceAllele": "C", "start": 19644 } ], "hgvs": [ "NG_007095.2:g.19645C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000476" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000176643.11:c.1003C>T" ], "proteinEffect": { "hgvs": "ENSP00000176643.6:p.Pro335Ser", "hgvsWellDefined": "ENSP00000176643.6:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS740084", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000176643.11:c.1003C>T" }, "RefSeq": { "hgvs": "NM_000382.3:c.1003C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000176643.6:p.Pro335Ser" }, "RefSeq": { "hgvs": "NP_000373.1:p.Pro335Ser" } } } }, { "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "C", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000395575.7:c.676C>T" ], "proteinEffect": { "hgvs": "ENSP00000378942.3:p.Pro226Ser", "hgvsWellDefined": "ENSP00000378942.3:p.Pro226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS753413" }, { "coordinates": [ { "allele": "T", "end": 1231, "referenceAllele": "C", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000472059.6:c.*561C>T" ], "proteinEffect": { "hgvs": "ENSP00000458397.1:n.*561C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS757050" }, { "coordinates": [ { "allele": "T", "end": 22, "referenceAllele": "C", "start": 21 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000571163.2:c.22C>T" ], "proteinEffect": { "hgvs": "ENSP00000459977.2:p.Pro8Ser", "hgvsWellDefined": "ENSP00000459977.2:p.Pro8Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS760649" }, { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000574078.3:n.332C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS760727" }, { "coordinates": [ { "allele": "T", "end": 1170, "referenceAllele": "C", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000581518.6:c.1003C>T" ], "proteinEffect": { "hgvs": "ENSP00000461916.2:p.Pro335Ser", "hgvsWellDefined": "ENSP00000461916.2:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS760909" }, { "coordinates": [ { "allele": "T", "end": 1103, "referenceAllele": "C", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000582991.6:c.1003C>T" ], "proteinEffect": { "hgvs": "ENSP00000464153.1:p.Pro335Ser", "hgvsWellDefined": "ENSP00000464153.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS760936" }, { "coordinates": [ { "allele": "T", "end": 1194, "referenceAllele": "C", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000671878.1:c.1003C>T" ], "proteinEffect": { "hgvs": "ENSP00000500516.1:p.Pro335Ser", "hgvsWellDefined": "ENSP00000500516.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS773196" }, { "coordinates": [ { "allele": "T", "end": 1454, "referenceAllele": "C", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000672059.1:n.1454C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773255" }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000672357.1:c.1003C>T" ], "proteinEffect": { "hgvs": "ENSP00000500092.1:p.Pro335Ser", "hgvsWellDefined": "ENSP00000500092.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS773360" }, { "coordinates": [ { "allele": "T", "end": 1132, "referenceAllele": "C", "start": 1131 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000672465.1:c.1003C>T" ], "proteinEffect": { "hgvs": "ENSP00000500517.1:p.Pro335Ser", "hgvsWellDefined": "ENSP00000500517.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS773392" }, { "coordinates": [ { "allele": "T", "end": 1069, "referenceAllele": "C", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000672487.1:c.*183C>T" ], "proteinEffect": { "hgvs": "ENSP00000500740.1:n.*183C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773398" }, { "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000672564.1:n.1224C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773416" }, { "coordinates": [ { "allele": "T", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000672567.1:c.894C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773418" }, { "coordinates": [ { "allele": "T", "end": 63, "referenceAllele": "C", "start": 62 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000672591.1:c.63C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773426" }, { "coordinates": [ { "allele": "T", "end": 1992, "referenceAllele": "C", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000672608.1:n.1992C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773432" }, { "coordinates": [ { "allele": "T", "end": 857, "referenceAllele": "C", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000672709.1:c.857C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773462" }, { "coordinates": [ { "allele": "T", "end": 1503, "referenceAllele": "C", "start": 1502 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000673064.1:n.1503C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773586" }, { "coordinates": [ { "allele": "T", "end": 1153, "referenceAllele": "C", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000673136.1:c.1003C>T" ], "proteinEffect": { "hgvs": "ENSP00000500380.1:p.Pro335Ser", "hgvsWellDefined": "ENSP00000500380.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS773596" }, { "coordinates": [ { "allele": "T", "end": 1339, "referenceAllele": "C", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000673472.1:n.1339C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773696" }, { "coordinates": [ { "allele": "T", "end": 1463, "referenceAllele": "C", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000673516.1:n.1463C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773710" }, { "coordinates": [ { "allele": "T", "end": 1449, "referenceAllele": "C", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000176643.10:c.1003C>T" ], "proteinEffect": { "hgvs": "ENSP00000176643.6:p.Pro335Ser", "hgvsWellDefined": "ENSP00000176643.6:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247688" }, { "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000339618.8:c.1003C>T" ], "proteinEffect": { "hgvs": "ENSP00000345774.4:p.Pro335Ser", "hgvsWellDefined": "ENSP00000345774.4:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS260913" }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000395575.6:c.1003C>T" ], "proteinEffect": { "hgvs": "ENSP00000378942.2:p.Pro335Ser", "hgvsWellDefined": "ENSP00000378942.2:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS276768" }, { "coordinates": [ { "allele": "T", "end": 1231, "referenceAllele": "C", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000472059.5:c.*561C>T" ], "proteinEffect": { "hgvs": "ENSP00000458397.1:n.*561C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS314121" }, { "coordinates": [ { "allele": "T", "end": 753, "referenceAllele": "C", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000476965.5:n.753C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317893" }, { "coordinates": [ { "allele": "T", "end": 22, "referenceAllele": "C", "start": 21 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000571163.1:c.22C>T" ], "proteinEffect": { "hgvs": "ENSP00000459977.1:p.Pro8Ser", "hgvsWellDefined": "ENSP00000459977.1:p.Pro8Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS382397" }, { "coordinates": [ { "allele": "T", "end": 10, "referenceAllele": "C", "start": 9 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000573947.1:c.10C>T" ], "proteinEffect": { "hgvs": "ENSP00000462933.1:p.Pro4Ser", "hgvsWellDefined": "ENSP00000462933.1:p.Pro4Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS383493" }, { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000574078.2:n.332C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS383536" }, { "coordinates": [ { "allele": "T", "end": 1102, "referenceAllele": "C", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000579855.5:c.1003C>T" ], "proteinEffect": { "hgvs": "ENSP00000463637.1:p.Pro335Ser", "hgvsWellDefined": "ENSP00000463637.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS386039" }, { "coordinates": [ { "allele": "T", "end": 1252, "referenceAllele": "C", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000581518.5:c.1003C>T" ], "proteinEffect": { "hgvs": "ENSP00000461916.1:p.Pro335Ser", "hgvsWellDefined": "ENSP00000461916.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS386826" }, { "coordinates": [ { "allele": "T", "end": 1252, "referenceAllele": "C", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000582991.5:c.1003C>T" ], "proteinEffect": { "hgvs": "ENSP00000464153.1:p.Pro335Ser", "hgvsWellDefined": "ENSP00000464153.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS387529" }, { "coordinates": [ { "allele": "T", "end": 1169, "referenceAllele": "C", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000630662.2:c.22C>T" ], "proteinEffect": { "hgvs": "ENSP00000487353.1:p.Pro8Ser", "hgvsWellDefined": "ENSP00000487353.1:p.Pro8Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS407399" }, { "coordinates": [ { "allele": "T", "end": 1449, "referenceAllele": "C", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000631291.2:c.1003C>T" ], "proteinEffect": { "hgvs": "ENSP00000486085.1:p.Pro335Ser", "hgvsWellDefined": "ENSP00000486085.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS407498" }, { "@id": "http://reg.genome.network/allele/PA2825163381", "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_000382.2:c.1003C>T" ], "proteinEffect": { "hgvs": "NP_000373.1:p.Pro335Ser", "hgvsWellDefined": "NP_000373.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006444" }, { "@id": "http://reg.genome.network/allele/PA2825356376", "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001031806.1:c.1003C>T" ], "proteinEffect": { "hgvs": "NP_001026976.1:p.Pro335Ser", "hgvsWellDefined": "NP_001026976.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS009036" }, { "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "C", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_011523732.1:c.1003C>T" ], "proteinEffect": { "hgvs": "XP_011522034.1:p.Pro335Ser", "hgvsWellDefined": "XP_011522034.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS090865" }, { "coordinates": [ { "allele": "T", "end": 1170, "referenceAllele": "C", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_011523733.1:c.1003C>T" ], "proteinEffect": { "hgvs": "XP_011522035.1:p.Pro335Ser", "hgvsWellDefined": "XP_011522035.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS090866" }, { "coordinates": [ { "allele": "T", "end": 1160, "referenceAllele": "C", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_011523733.2:c.1003C>T" ], "proteinEffect": { "hgvs": "XP_011522035.1:p.Pro335Ser", "hgvsWellDefined": "XP_011522035.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS547145" }, { "coordinates": [ { "allele": "T", "end": 1026, "referenceAllele": "C", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_017024355.1:c.1003C>T" ], "proteinEffect": { "hgvs": "XP_016879844.1:p.Pro335Ser", "hgvsWellDefined": "XP_016879844.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS574934" }, { "coordinates": [ { "allele": "T", "end": 1148, "referenceAllele": "C", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_017024356.2:c.1003C>T" ], "proteinEffect": { "hgvs": "XP_016879845.1:p.Pro335Ser", "hgvsWellDefined": "XP_016879845.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS574935" }, { "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "C", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_017024357.1:c.1003C>T" ], "proteinEffect": { "hgvs": "XP_016879846.1:p.Pro335Ser", "hgvsWellDefined": "XP_016879846.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS574936" }, { "coordinates": [ { "allele": "T", "end": 1132, "referenceAllele": "C", "start": 1131 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_017024358.2:c.1003C>T" ], "proteinEffect": { "hgvs": "XP_016879847.1:p.Pro335Ser", "hgvsWellDefined": "XP_016879847.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS574937" }, { "coordinates": [ { "allele": "T", "end": 903, "referenceAllele": "C", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_024450651.1:c.424C>T" ], "proteinEffect": { "hgvs": "XP_024306419.1:p.Pro142Ser", "hgvsWellDefined": "XP_024306419.1:p.Pro142Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS584185" }, { "coordinates": [ { "allele": "T", "end": 1236, "referenceAllele": "C", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_024450652.1:c.424C>T" ], "proteinEffect": { "hgvs": "XP_024306420.1:p.Pro142Ser", "hgvsWellDefined": "XP_024306420.1:p.Pro142Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS584186" }, { "@id": "http://reg.genome.network/allele/PA2825163381", "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_000382.3:c.1003C>T" ], "proteinEffect": { "hgvs": "NP_000373.1:p.Pro335Ser", "hgvsWellDefined": "NP_000373.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674821", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000176643.11:c.1003C>T" }, "RefSeq": { "hgvs": "NM_000382.3:c.1003C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000176643.6:p.Pro335Ser" }, "RefSeq": { "hgvs": "NP_000373.1:p.Pro335Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2825356376", "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001031806.2:c.1003C>T" ], "proteinEffect": { "hgvs": "NP_001026976.1:p.Pro335Ser", "hgvsWellDefined": "NP_001026976.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS675748" }, { "@id": "http://reg.genome.network/allele/PA2828312977", "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "C", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369136.1:c.1003C>T" ], "proteinEffect": { "hgvs": "NP_001356065.1:p.Pro335Ser", "hgvsWellDefined": "NP_001356065.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691563" }, { "@id": "http://reg.genome.network/allele/PA2828313286", "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "C", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369137.1:c.1003C>T" ], "proteinEffect": { "hgvs": "NP_001356066.1:p.Pro335Ser", "hgvsWellDefined": "NP_001356066.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691564" }, { "@id": "http://reg.genome.network/allele/PA2828313595", "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "C", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369138.1:c.1003C>T" ], "proteinEffect": { "hgvs": "NP_001356067.1:p.Pro335Ser", "hgvsWellDefined": "NP_001356067.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691565" }, { "@id": "http://reg.genome.network/allele/PA2828313906", "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "C", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369139.1:c.1003C>T" ], "proteinEffect": { "hgvs": "NP_001356068.1:p.Pro335Ser", "hgvsWellDefined": "NP_001356068.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691566" }, { "@id": "http://reg.genome.network/allele/PA2499254364", "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "C", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369146.1:c.1003C>T" ], "proteinEffect": { "hgvs": "NP_001356075.1:p.Pro335Ser", "hgvsWellDefined": "NP_001356075.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691568" }, { "@id": "http://reg.genome.network/allele/PA2828314319", "coordinates": [ { "allele": "T", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369148.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001356077.1:p.Pro142Ser", "hgvsWellDefined": "NP_001356077.1:p.Pro142Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691569" }, { "@id": "http://reg.genome.network/allele/PA2828313286", "coordinates": [ { "allele": "T", "end": 1170, "referenceAllele": "C", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369137.2:c.1003C>T" ], "proteinEffect": { "hgvs": "NP_001356066.1:p.Pro335Ser", "hgvsWellDefined": "NP_001356066.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721137" }, { "@id": "http://reg.genome.network/allele/PA2828313595", "coordinates": [ { "allele": "T", "end": 1170, "referenceAllele": "C", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369138.2:c.1003C>T" ], "proteinEffect": { "hgvs": "NP_001356067.1:p.Pro335Ser", "hgvsWellDefined": "NP_001356067.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721138" }, { "@id": "http://reg.genome.network/allele/PA2499254364", "coordinates": [ { "allele": "T", "end": 1170, "referenceAllele": "C", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369146.2:c.1003C>T" ], "proteinEffect": { "hgvs": "NP_001356075.1:p.Pro335Ser", "hgvsWellDefined": "NP_001356075.1:p.Pro335Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721139" }, { "@id": "http://reg.genome.network/allele/PA2828314319", "coordinates": [ { "allele": "T", "end": 1279, "referenceAllele": "C", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369148.2:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001356077.1:p.Pro142Ser", "hgvsWellDefined": "NP_001356077.1:p.Pro142Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721140" } ], "type": "nucleotide" }