Canonical Allele Identifier: CA2418225720
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359763C= , CM000685.2:g.19359763C= GRCh38
NC_000023.10:g.19377881C= , CM000685.1:g.19377881C= GRCh37
NC_000023.9:g.19287802C= NCBI36
NG_016781.1:g.20871C=
NG_021184.1:g.160499G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.*110C= ENSP00000348062.6:n.*110C=
ENST00000379805.4:c.*975C= ENSP00000369133.3:n.*975C=
ENST00000417819.6:c.*110C= ENSP00000404616.2:n.*110C=
ENST00000423505.6:c.*110C= ENSP00000406473.2:n.*110C=
ENST00000481733.2:n.1078C=
ENST00000696704.1:c.*615C= ENSP00000512823.1:n.*615C=
ENST00000696705.1:c.*738C= ENSP00000512824.1:n.*738C=
ENST00000422285.7:c.*110C= MANE Select ENSP00000394382.2:n.*110C=
ENST00000379804.1:c.*110C= ENSP00000369132.1:n.*110C=
ENST00000379806.9:c.*110C= ENSP00000369134.5:n.*110C=
ENST00000422285.6:c.*110C= ENSP00000394382.2:n.*110C=
ENST00000478795.1:n.722C=
ENST00000540249.5:c.*110C= ENSP00000440761.1:n.*110C=
ENST00000545074.5:c.*110C= ENSP00000438550.1:n.*110C=
NM_000284.3:c.*110C= NP_000275.1:n.*110C=
NM_001173454.1:c.*110C= NP_001166925.1:n.*110C=
NM_001173455.1:c.*110C= NP_001166926.1:n.*110C=
NM_001173456.1:c.*110C= NP_001166927.1:n.*110C=
XM_011545531.1:c.*110C= XP_011543833.1:n.*110C=
XM_011545532.1:c.*110C= XP_011543834.1:n.*110C=
XM_017029574.2:c.*110C= XP_016885063.1:n.*110C=
NM_000284.4:c.*110C= MANE Select NP_000275.1:n.*110C=
NM_001173454.2:c.*110C= NP_001166925.1:n.*110C=
NM_001173455.2:c.*110C= NP_001166926.1:n.*110C=
NM_001173456.2:c.*110C= NP_001166927.1:n.*110C=