Canonical Allele Identifier: CA2693250889
Gene: PDHA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19357591_19357600dup , CM000685.2:g.19357591_19357600dup GRCh38
NC_000023.10:g.19375709_19375718dup , CM000685.1:g.19375709_19375718dup GRCh37
NC_000023.9:g.19285630_19285639dup NCBI36
NG_016781.1:g.18699_18708dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.853-61_853-52dup ENSP00000348062.6:n.853-61_853-52dup
ENST00000379805.4:c.*524-61_*524-52dup ENSP00000369133.3:n.*524-61_*524-52dup
ENST00000417819.6:c.916-61_916-52dup ENSP00000404616.2:n.916-61_916-52dup
ENST00000423505.6:c.946-61_946-52dup ENSP00000406473.2:n.946-61_946-52dup
ENST00000481733.2:n.627-61_627-52dup
ENST00000696704.1:c.*164-61_*164-52dup ENSP00000512823.1:n.*164-61_*164-52dup
ENST00000696705.1:c.*287-61_*287-52dup ENSP00000512824.1:n.*287-61_*287-52dup
ENST00000422285.7:c.832-61_832-52dup MANE Select ENSP00000394382.2:n.832-61_832-52dup
ENST00000379804.1:c.-12-61_-12-52dup ENSP00000369132.1:n.-12-61_-12-52dup
ENST00000379806.9:c.946-61_946-52dup ENSP00000369134.5:n.946-61_946-52dup
ENST00000422285.6:c.832-61_832-52dup ENSP00000394382.2:n.832-61_832-52dup
ENST00000478795.1:n.210_219dup
ENST00000481733.1:n.260-61_260-52dup
ENST00000540249.5:c.739-61_739-52dup ENSP00000440761.1:n.739-61_739-52dup
ENST00000545074.5:c.853-61_853-52dup ENSP00000438550.1:n.853-61_853-52dup
NM_000284.3:c.832-61_832-52dup NP_000275.1:n.832-61_832-52dup
NM_001173454.1:c.946-61_946-52dup NP_001166925.1:n.946-61_946-52dup
NM_001173455.1:c.853-61_853-52dup NP_001166926.1:n.853-61_853-52dup
NM_001173456.1:c.739-61_739-52dup NP_001166927.1:n.739-61_739-52dup
XM_011545531.1:c.967-61_967-52dup XP_011543833.1:n.967-61_967-52dup
XM_011545532.1:c.874-61_874-52dup XP_011543834.1:n.874-61_874-52dup
XM_017029574.2:c.853-61_853-52dup XP_016885063.1:n.853-61_853-52dup
NM_000284.4:c.832-61_832-52dup MANE Select NP_000275.1:n.832-61_832-52dup
NM_001173454.2:c.946-61_946-52dup NP_001166925.1:n.946-61_946-52dup
NM_001173455.2:c.853-61_853-52dup NP_001166926.1:n.853-61_853-52dup
NM_001173456.2:c.739-61_739-52dup NP_001166927.1:n.739-61_739-52dup