{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA242431", "communityStandardTitle": [ "NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192970[alleleid]", "alleleId": 192970, "preferredName": "NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195809", "RCV": [ "RCV000247012", "RCV000724084", "RCV001089342" ], "variationId": 195809 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-13870935-C-T", "id": "5-13870935-C-T", "variant": "5:13870935 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.13870935C>T?assembly=hg19", "id": "chr5:g.13870935C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.13870826C>T?assembly=hg38", "id": "chr5:g.13870826C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/112217391", "rs": 112217391 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-13870935-C-T?dataset=gnomad_r2_1", "id": "5-13870935-C-T", "variant": "5:13870935 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-13870826-C-T?dataset=gnomad_r3", "id": "5-13870826-C-T", "variant": "5:13870826 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-13870826-C-T?dataset=gnomad_r4", "id": "5-13870826-C-T", "variant": "5:13870826 C / T" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 13870826, "referenceAllele": "C", "start": 13870825 } ], "hgvs": [ "NC_000005.10:g.13870826C>T", "CM000667.2:g.13870826C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 13870935, "referenceAllele": "C", "start": 13870934 } ], "hgvs": [ "NC_000005.9:g.13870935C>T", "CM000667.1:g.13870935C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 13923935, "referenceAllele": "C", "start": 13923934 } ], "hgvs": [ "NC_000005.8:g.13923935C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 78655, "referenceAllele": "G", "start": 78654 } ], "hgvs": [ "NG_013081.1:g.78655G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002704" }, { "coordinates": [ { "allele": "A", "end": 78655, "referenceAllele": "G", "start": 78654 } ], "hgvs": [ "NG_013081.2:g.78655G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673632" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4025, "referenceAllele": "G", "start": 4024 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "ENST00000265104.5:c.3775G>A" ], "proteinEffect": { "hgvs": "ENSP00000265104.4:p.Ala1259Thr", "hgvsWellDefined": "ENSP00000265104.4:p.Ala1259Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS742788", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265104.5:c.3775G>A" }, "RefSeq": { "hgvs": "NM_001369.3:c.3775G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265104.4:p.Ala1259Thr" }, "RefSeq": { "hgvs": "NP_001360.1:p.Ala1259Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 3889, "referenceAllele": "G", "start": 3888 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "ENST00000681290.1:c.3730G>A" ], "proteinEffect": { "hgvs": "ENSP00000505288.1:p.Ala1244Thr", "hgvsWellDefined": "ENSP00000505288.1:p.Ala1244Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS780901" }, { "coordinates": [ { "allele": "A", "end": 3880, "referenceAllele": "G", "start": 3879 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "ENST00000265104.4:c.3775G>A" ], "proteinEffect": { "hgvs": "ENSP00000265104.4:p.Ala1259Thr", "hgvsWellDefined": "ENSP00000265104.4:p.Ala1259Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS251673" }, { "@id": "http://reg.genome.network/allele/PA242432", "coordinates": [ { "allele": "A", "end": 3817, "referenceAllele": "G", "start": 3816 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "NM_001369.2:c.3775G>A" ], "proteinEffect": { "hgvs": "NP_001360.1:p.Ala1259Thr", "hgvsWellDefined": "NP_001360.1:p.Ala1259Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS026756" }, { "coordinates": [ { "allele": "A", "end": 3830, "referenceAllele": "G", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_005248262.2:c.3730G>A" ], "proteinEffect": { "hgvs": "XP_005248319.1:p.Ala1244Thr", "hgvsWellDefined": "XP_005248319.1:p.Ala1244Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS058370" }, { "coordinates": [ { "allele": "A", "end": 3982, "referenceAllele": "G", "start": 3981 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_011513990.1:c.3775G>A" ], "proteinEffect": { "hgvs": "XP_011512292.1:p.Ala1259Thr", "hgvsWellDefined": "XP_011512292.1:p.Ala1259Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS081219" }, { "coordinates": [ { "allele": "A", "end": 3982, "referenceAllele": "G", "start": 3981 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XR_925598.1:n.3982G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS122426" }, { "coordinates": [ { "allele": "A", "end": 3900, "referenceAllele": "G", "start": 3899 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_005248262.3:c.3883G>A" ], "proteinEffect": { "hgvs": "XP_005248319.2:p.Ala1295Thr", "hgvsWellDefined": "XP_005248319.2:p.Ala1295Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS533031" }, { "coordinates": [ { "allele": "A", "end": 3900, "referenceAllele": "G", "start": 3899 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009177.1:c.3883G>A" ], "proteinEffect": { "hgvs": "XP_016864666.1:p.Ala1295Thr", "hgvsWellDefined": "XP_016864666.1:p.Ala1295Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS563535" }, { "coordinates": [ { "allele": "A", "end": 4703, "referenceAllele": "G", "start": 4702 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009178.1:c.2788G>A" ], "proteinEffect": { "hgvs": "XP_016864667.1:p.Ala930Thr", "hgvsWellDefined": "XP_016864667.1:p.Ala930Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS563536" }, { "coordinates": [ { "allele": "A", "end": 2926, "referenceAllele": "G", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009179.2:c.2788G>A" ], "proteinEffect": { "hgvs": "XP_016864668.1:p.Ala930Thr", "hgvsWellDefined": "XP_016864668.1:p.Ala930Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS563537" }, { "coordinates": [ { "allele": "A", "end": 3900, "referenceAllele": "G", "start": 3899 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009180.1:c.3883G>A" ], "proteinEffect": { "hgvs": "XP_016864669.1:p.Ala1295Thr", "hgvsWellDefined": "XP_016864669.1:p.Ala1295Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS563538" }, { "coordinates": [ { "allele": "A", "end": 3900, "referenceAllele": "G", "start": 3899 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009181.1:c.3883G>A" ], "proteinEffect": { "hgvs": "XP_016864670.1:p.Ala1295Thr", "hgvsWellDefined": "XP_016864670.1:p.Ala1295Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS563539" }, { "coordinates": [ { "allele": "A", "end": 3900, "referenceAllele": "G", "start": 3899 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009182.1:c.3883G>A" ], "proteinEffect": { "hgvs": "XP_016864671.1:p.Ala1295Thr", "hgvsWellDefined": "XP_016864671.1:p.Ala1295Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS563540" }, { "coordinates": [ { "allele": "A", "end": 3900, "referenceAllele": "G", "start": 3899 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009183.1:c.3883G>A" ], "proteinEffect": { "hgvs": "XP_016864672.1:p.Ala1295Thr", "hgvsWellDefined": "XP_016864672.1:p.Ala1295Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS563541" }, { "coordinates": [ { "allele": "A", "end": 3900, "referenceAllele": "G", "start": 3899 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009184.1:c.3883G>A" ], "proteinEffect": { "hgvs": "XP_016864673.1:p.Ala1295Thr", "hgvsWellDefined": "XP_016864673.1:p.Ala1295Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS563542" }, { "coordinates": [ { "allele": "A", "end": 3900, "referenceAllele": "G", "start": 3899 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009187.1:c.3883G>A" ], "proteinEffect": { "hgvs": "XP_016864676.1:p.Ala1295Thr", "hgvsWellDefined": "XP_016864676.1:p.Ala1295Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS563545" }, { "coordinates": [ { "allele": "A", "end": 6573, "referenceAllele": "G", "start": 6572 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_024454388.1:c.2788G>A" ], "proteinEffect": { "hgvs": "XP_024310156.1:p.Ala930Thr", "hgvsWellDefined": "XP_024310156.1:p.Ala930Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS587750" }, { "coordinates": [ { "allele": "A", "end": 5215, "referenceAllele": "G", "start": 5214 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_024454389.1:c.2377G>A" ], "proteinEffect": { "hgvs": "XP_024310157.1:p.Ala793Thr", "hgvsWellDefined": "XP_024310157.1:p.Ala793Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS587751" }, { "coordinates": [ { "allele": "A", "end": 3900, "referenceAllele": "G", "start": 3899 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XR_001742034.1:n.3900G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591906" }, { "coordinates": [ { "allele": "A", "end": 3900, "referenceAllele": "G", "start": 3899 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XR_001742035.1:n.3900G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591907" }, { "@id": "http://reg.genome.network/allele/PA242432", "coordinates": [ { "allele": "A", "end": 4025, "referenceAllele": "G", "start": 4024 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "NM_001369.3:c.3775G>A" ], "proteinEffect": { "hgvs": "NP_001360.1:p.Ala1259Thr", "hgvsWellDefined": "NP_001360.1:p.Ala1259Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721135", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265104.5:c.3775G>A" }, "RefSeq": { "hgvs": "NM_001369.3:c.3775G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265104.4:p.Ala1259Thr" }, "RefSeq": { "hgvs": "NP_001360.1:p.Ala1259Thr" } } } } ], "type": "nucleotide" }