{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA404321429", "communityStandardTitle": [ "NM_000159.4(GCDH):c.1132G>A (p.Ala378Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1514637[alleleid]", "alleleId": 1514637, "preferredName": "NM_000159.4(GCDH):c.1132G>A (p.Ala378Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1464926", "RCV": [ "RCV001963579" ], "variationId": 1464926 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.13008566G>A?assembly=hg19", "id": "chr19:g.13008566G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.12897752G>A?assembly=hg38", "id": "chr19:g.12897752G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1442597198", "rs": 1442597198 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-12897752-G-A?dataset=gnomad_r4", "id": "19-12897752-G-A", "variant": "19:12897752 G / A" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 12897752, "referenceAllele": "G", "start": 12897751 } ], "hgvs": [ "NC_000019.10:g.12897752G>A", "CM000681.2:g.12897752G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 13008566, "referenceAllele": "G", "start": 13008565 } ], "hgvs": [ "NC_000019.9:g.13008566G>A", "CM000681.1:g.13008566G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 12869566, "referenceAllele": "G", "start": 12869565 } ], "hgvs": [ "NC_000019.8:g.12869566G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 11593, "referenceAllele": "G", "start": 11592 } ], "hgvs": [ "NG_009292.1:g.11593G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001548" }, { "coordinates": [ { "allele": "T", "end": 26521, "referenceAllele": "C", "start": 26520 } ], "hgvs": [ "NG_033049.1:g.26521C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005381" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000222214.10:c.1132G>A" ], "proteinEffect": { "hgvs": "ENSP00000222214.4:p.Ala378Thr", "hgvsWellDefined": "ENSP00000222214.4:p.Ala378Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS740551", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222214.10:c.1132G>A" }, "RefSeq": { "hgvs": "NM_000159.4:c.1132G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222214.4:p.Ala378Thr" }, "RefSeq": { "hgvs": "NP_000150.1:p.Ala378Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 1343, "referenceAllele": "G", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000222214.9:c.1132G>A" ], "proteinEffect": { "hgvs": "ENSP00000222214.4:p.Ala378Thr", "hgvsWellDefined": "ENSP00000222214.4:p.Ala378Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS248350" }, { "coordinates": [ { "allele": "A", "end": 1462, "referenceAllele": "G", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000585420.5:n.1462G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS388707" }, { "coordinates": [ { "allele": "A", "end": 176, "referenceAllele": "G", "start": 175 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000590472.5:c.176G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS392213" }, { "coordinates": [ { "allele": "A", "end": 1258, "referenceAllele": "G", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000590530.5:c.*572G>A" ], "proteinEffect": { "hgvs": "ENSP00000468452.1:n.*572G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS392249" }, { "coordinates": [ { "allele": "A", "end": 1442, "referenceAllele": "G", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000591043.1:n.1442G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS392611" }, { "coordinates": [ { "allele": "A", "end": 99, "referenceAllele": "G", "start": 98 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000591050.1:c.99G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS392617" }, { "coordinates": [ { "allele": "A", "end": 1277, "referenceAllele": "G", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000591470.5:c.1132G>A" ], "proteinEffect": { "hgvs": "ENSP00000466845.1:p.Ala378Thr", "hgvsWellDefined": "ENSP00000466845.1:p.Ala378Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS392892" }, { "@id": "http://reg.genome.network/allele/PA2825070275", "coordinates": [ { "allele": "A", "end": 1240, "referenceAllele": "G", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_000159.3:c.1132G>A" ], "proteinEffect": { "hgvs": "NP_000150.1:p.Ala378Thr", "hgvsWellDefined": "NP_000150.1:p.Ala378Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006221" }, { "@id": "http://reg.genome.network/allele/PA2573256070", "coordinates": [ { "allele": "A", "end": 1240, "referenceAllele": "G", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.3:c.1132G>A" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Ala378Thr", "hgvsWellDefined": "NP_039663.1:p.Ala378Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS032843" }, { "coordinates": [ { "allele": "A", "end": 1295, "referenceAllele": "G", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NR_102316.1:n.1295G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS052774" }, { "coordinates": [ { "allele": "A", "end": 1513, "referenceAllele": "G", "start": 1512 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NR_102317.1:n.1513G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS052775" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_006722721.2:c.1132G>A" ], "proteinEffect": { "hgvs": "XP_006722784.1:p.Ala378Thr", "hgvsWellDefined": "XP_006722784.1:p.Ala378Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS074704" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527899.1:c.1132G>A" ], "proteinEffect": { "hgvs": "XP_011526201.1:p.Ala378Thr", "hgvsWellDefined": "XP_011526201.1:p.Ala378Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS094980" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527900.1:c.1132G>A" ], "proteinEffect": { "hgvs": "XP_011526202.1:p.Ala378Thr", "hgvsWellDefined": "XP_011526202.1:p.Ala378Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS094981" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527899.2:c.1132G>A" ], "proteinEffect": { "hgvs": "XP_011526201.1:p.Ala378Thr", "hgvsWellDefined": "XP_011526201.1:p.Ala378Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS548874" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527900.2:c.1132G>A" ], "proteinEffect": { "hgvs": "XP_011526202.1:p.Ala378Thr", "hgvsWellDefined": "XP_011526202.1:p.Ala378Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS548875" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_017026580.1:c.1132G>A" ], "proteinEffect": { "hgvs": "XP_016882069.1:p.Ala378Thr", "hgvsWellDefined": "XP_016882069.1:p.Ala378Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS576706" }, { "@id": "http://reg.genome.network/allele/PA2825070275", "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_000159.4:c.1132G>A" ], "proteinEffect": { "hgvs": "NP_000150.1:p.Ala378Thr", "hgvsWellDefined": "NP_000150.1:p.Ala378Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS662332", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222214.10:c.1132G>A" }, "RefSeq": { "hgvs": "NM_000159.4:c.1132G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222214.4:p.Ala378Thr" }, "RefSeq": { "hgvs": "NP_000150.1:p.Ala378Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2573256070", "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.4:c.1132G>A" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Ala378Thr", "hgvsWellDefined": "NP_039663.1:p.Ala378Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS697153" }, { "@id": "http://reg.genome.network/allele/PA2573256070", "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.5:c.1132G>A" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Ala378Thr", "hgvsWellDefined": "NP_039663.1:p.Ala378Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS727927" } ], "type": "nucleotide" }