Canonical Allele Identifier: CA2693250872
Gene: PDHA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19357543_19357569dup , CM000685.2:g.19357543_19357569dup GRCh38
NC_000023.10:g.19375661_19375687dup , CM000685.1:g.19375661_19375687dup GRCh37
NC_000023.9:g.19285582_19285608dup NCBI36
NG_016781.1:g.18651_18677dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.853-109_853-83dup ENSP00000348062.6:n.853-109_853-83dup
ENST00000379805.4:c.*524-109_*524-83dup ENSP00000369133.3:n.*524-109_*524-83dup
ENST00000417819.6:c.916-109_916-83dup ENSP00000404616.2:n.916-109_916-83dup
ENST00000423505.6:c.946-109_946-83dup ENSP00000406473.2:n.946-109_946-83dup
ENST00000481733.2:n.627-109_627-83dup
ENST00000696704.1:c.*164-109_*164-83dup ENSP00000512823.1:n.*164-109_*164-83dup
ENST00000696705.1:c.*287-109_*287-83dup ENSP00000512824.1:n.*287-109_*287-83dup
ENST00000422285.7:c.832-109_832-83dup MANE Select ENSP00000394382.2:n.832-109_832-83dup
ENST00000379804.1:c.-12-109_-12-83dup ENSP00000369132.1:n.-12-109_-12-83dup
ENST00000379806.9:c.946-109_946-83dup ENSP00000369134.5:n.946-109_946-83dup
ENST00000422285.6:c.832-109_832-83dup ENSP00000394382.2:n.832-109_832-83dup
ENST00000478795.1:n.162_188dup
ENST00000481733.1:n.260-109_260-83dup
ENST00000540249.5:c.739-109_739-83dup ENSP00000440761.1:n.739-109_739-83dup
ENST00000545074.5:c.853-109_853-83dup ENSP00000438550.1:n.853-109_853-83dup
NM_000284.3:c.832-109_832-83dup NP_000275.1:n.832-109_832-83dup
NM_001173454.1:c.946-109_946-83dup NP_001166925.1:n.946-109_946-83dup
NM_001173455.1:c.853-109_853-83dup NP_001166926.1:n.853-109_853-83dup
NM_001173456.1:c.739-109_739-83dup NP_001166927.1:n.739-109_739-83dup
XM_011545531.1:c.967-109_967-83dup XP_011543833.1:n.967-109_967-83dup
XM_011545532.1:c.874-109_874-83dup XP_011543834.1:n.874-109_874-83dup
XM_017029574.2:c.853-109_853-83dup XP_016885063.1:n.853-109_853-83dup
NM_000284.4:c.832-109_832-83dup MANE Select NP_000275.1:n.832-109_832-83dup
NM_001173454.2:c.946-109_946-83dup NP_001166925.1:n.946-109_946-83dup
NM_001173455.2:c.853-109_853-83dup NP_001166926.1:n.853-109_853-83dup
NM_001173456.2:c.739-109_739-83dup NP_001166927.1:n.739-109_739-83dup