Canonical Allele Identifier: CA2693250939
Gene: PDHA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19357747_19357750dup , CM000685.2:g.19357747_19357750dup GRCh38
NC_000023.10:g.19375865_19375868dup , CM000685.1:g.19375865_19375868dup GRCh37
NC_000023.9:g.19285786_19285789dup NCBI36
NG_016781.1:g.18855_18858dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.920+28_920+31dup ENSP00000348062.6:n.920+28_920+31dup
ENST00000379805.4:c.*591+28_*591+31dup ENSP00000369133.3:n.*591+28_*591+31dup
ENST00000417819.6:c.983+28_983+31dup ENSP00000404616.2:n.983+28_983+31dup
ENST00000423505.6:c.1013+28_1013+31dup ENSP00000406473.2:n.1013+28_1013+31dup
ENST00000481733.2:n.694+28_694+31dup
ENST00000696704.1:c.*231+28_*231+31dup ENSP00000512823.1:n.*231+28_*231+31dup
ENST00000696705.1:c.*354+28_*354+31dup ENSP00000512824.1:n.*354+28_*354+31dup
ENST00000422285.7:c.899+28_899+31dup MANE Select ENSP00000394382.2:n.899+28_899+31dup
ENST00000379804.1:c.56+28_56+31dup ENSP00000369132.1:n.56+28_56+31dup
ENST00000379806.9:c.1013+28_1013+31dup ENSP00000369134.5:n.1013+28_1013+31dup
ENST00000422285.6:c.899+28_899+31dup ENSP00000394382.2:n.899+28_899+31dup
ENST00000478795.1:n.338+28_338+31dup
ENST00000481733.1:n.327+28_327+31dup
ENST00000540249.5:c.806+28_806+31dup ENSP00000440761.1:n.806+28_806+31dup
ENST00000545074.5:c.920+28_920+31dup ENSP00000438550.1:n.920+28_920+31dup
NM_000284.3:c.899+28_899+31dup NP_000275.1:n.899+28_899+31dup
NM_001173454.1:c.1013+28_1013+31dup NP_001166925.1:n.1013+28_1013+31dup
NM_001173455.1:c.920+28_920+31dup NP_001166926.1:n.920+28_920+31dup
NM_001173456.1:c.806+28_806+31dup NP_001166927.1:n.806+28_806+31dup
XM_011545531.1:c.1034+28_1034+31dup XP_011543833.1:n.1034+28_1034+31dup
XM_011545532.1:c.941+28_941+31dup XP_011543834.1:n.941+28_941+31dup
XM_017029574.2:c.920+28_920+31dup XP_016885063.1:n.920+28_920+31dup
NM_000284.4:c.899+28_899+31dup MANE Select NP_000275.1:n.899+28_899+31dup
NM_001173454.2:c.1013+28_1013+31dup NP_001166925.1:n.1013+28_1013+31dup
NM_001173455.2:c.920+28_920+31dup NP_001166926.1:n.920+28_920+31dup
NM_001173456.2:c.806+28_806+31dup NP_001166927.1:n.806+28_806+31dup