Canonical Allele Identifier: CA2693250950
Gene: PDHA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19357772_19357781dup , CM000685.2:g.19357772_19357781dup GRCh38
NC_000023.10:g.19375890_19375899dup , CM000685.1:g.19375890_19375899dup GRCh37
NC_000023.9:g.19285811_19285820dup NCBI36
NG_016781.1:g.18880_18889dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.920+53_920+62dup ENSP00000348062.6:n.920+53_920+62dup
ENST00000379805.4:c.*591+53_*591+62dup ENSP00000369133.3:n.*591+53_*591+62dup
ENST00000417819.6:c.983+53_983+62dup ENSP00000404616.2:n.983+53_983+62dup
ENST00000423505.6:c.1013+53_1013+62dup ENSP00000406473.2:n.1013+53_1013+62dup
ENST00000481733.2:n.694+53_694+62dup
ENST00000696704.1:c.*231+53_*231+62dup ENSP00000512823.1:n.*231+53_*231+62dup
ENST00000696705.1:c.*354+53_*354+62dup ENSP00000512824.1:n.*354+53_*354+62dup
ENST00000422285.7:c.899+53_899+62dup MANE Select ENSP00000394382.2:n.899+53_899+62dup
ENST00000379804.1:c.56+53_56+62dup ENSP00000369132.1:n.56+53_56+62dup
ENST00000379806.9:c.1013+53_1013+62dup ENSP00000369134.5:n.1013+53_1013+62dup
ENST00000422285.6:c.899+53_899+62dup ENSP00000394382.2:n.899+53_899+62dup
ENST00000478795.1:n.338+53_338+62dup
ENST00000481733.1:n.327+53_327+62dup
ENST00000540249.5:c.806+53_806+62dup ENSP00000440761.1:n.806+53_806+62dup
ENST00000545074.5:c.920+53_920+62dup ENSP00000438550.1:n.920+53_920+62dup
NM_000284.3:c.899+53_899+62dup NP_000275.1:n.899+53_899+62dup
NM_001173454.1:c.1013+53_1013+62dup NP_001166925.1:n.1013+53_1013+62dup
NM_001173455.1:c.920+53_920+62dup NP_001166926.1:n.920+53_920+62dup
NM_001173456.1:c.806+53_806+62dup NP_001166927.1:n.806+53_806+62dup
XM_011545531.1:c.1034+53_1034+62dup XP_011543833.1:n.1034+53_1034+62dup
XM_011545532.1:c.941+53_941+62dup XP_011543834.1:n.941+53_941+62dup
XM_017029574.2:c.920+53_920+62dup XP_016885063.1:n.920+53_920+62dup
NM_000284.4:c.899+53_899+62dup MANE Select NP_000275.1:n.899+53_899+62dup
NM_001173454.2:c.1013+53_1013+62dup NP_001166925.1:n.1013+53_1013+62dup
NM_001173455.2:c.920+53_920+62dup NP_001166926.1:n.920+53_920+62dup
NM_001173456.2:c.806+53_806+62dup NP_001166927.1:n.806+53_806+62dup