Canonical Allele Identifier: CA2693251049
Gene: PDHA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358845_19358848dup , CM000685.2:g.19358845_19358848dup GRCh38
NC_000023.10:g.19376963_19376966dup , CM000685.1:g.19376963_19376966dup GRCh37
NC_000023.9:g.19286884_19286887dup NCBI36
NG_016781.1:g.19953_19956dup
NG_021184.1:g.161415_161418dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.921-71_921-68dup ENSP00000348062.6:n.921-71_921-68dup
ENST00000379805.4:c.*592-71_*592-68dup ENSP00000369133.3:n.*592-71_*592-68dup
ENST00000417819.6:c.984-71_984-68dup ENSP00000404616.2:n.984-71_984-68dup
ENST00000423505.6:c.1014-71_1014-68dup ENSP00000406473.2:n.1014-71_1014-68dup
ENST00000481733.2:n.695-71_695-68dup
ENST00000696704.1:c.*232-71_*232-68dup ENSP00000512823.1:n.*232-71_*232-68dup
ENST00000696705.1:c.*355-71_*355-68dup ENSP00000512824.1:n.*355-71_*355-68dup
ENST00000422285.7:c.900-71_900-68dup MANE Select ENSP00000394382.2:n.900-71_900-68dup
ENST00000379804.1:c.57-71_57-68dup ENSP00000369132.1:n.57-71_57-68dup
ENST00000379806.9:c.1014-71_1014-68dup ENSP00000369134.5:n.1014-71_1014-68dup
ENST00000422285.6:c.900-71_900-68dup ENSP00000394382.2:n.900-71_900-68dup
ENST00000478795.1:n.339-71_339-68dup
ENST00000481733.1:n.328-71_328-68dup
ENST00000540249.5:c.807-71_807-68dup ENSP00000440761.1:n.807-71_807-68dup
ENST00000545074.5:c.921-71_921-68dup ENSP00000438550.1:n.921-71_921-68dup
NM_000284.3:c.900-71_900-68dup NP_000275.1:n.900-71_900-68dup
NM_001173454.1:c.1014-71_1014-68dup NP_001166925.1:n.1014-71_1014-68dup
NM_001173455.1:c.921-71_921-68dup NP_001166926.1:n.921-71_921-68dup
NM_001173456.1:c.807-71_807-68dup NP_001166927.1:n.807-71_807-68dup
XM_011545531.1:c.1035-71_1035-68dup XP_011543833.1:n.1035-71_1035-68dup
XM_011545532.1:c.942-71_942-68dup XP_011543834.1:n.942-71_942-68dup
XM_017029574.2:c.921-71_921-68dup XP_016885063.1:n.921-71_921-68dup
NM_000284.4:c.900-71_900-68dup MANE Select NP_000275.1:n.900-71_900-68dup
NM_001173454.2:c.1014-71_1014-68dup NP_001166925.1:n.1014-71_1014-68dup
NM_001173455.2:c.921-71_921-68dup NP_001166926.1:n.921-71_921-68dup
NM_001173456.2:c.807-71_807-68dup NP_001166927.1:n.807-71_807-68dup