Canonical Allele Identifier: CA2418225850
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359941C= , CM000685.2:g.19359941C= GRCh38
NC_000023.10:g.19378059C= , CM000685.1:g.19378059C= GRCh37
NC_000023.9:g.19287980C= NCBI36
NG_016781.1:g.21049C=
NG_021184.1:g.160321G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.*288C= ENSP00000348062.6:n.*288C=
ENST00000423505.6:c.*288C= ENSP00000406473.2:n.*288C=
ENST00000696704.1:c.*793C= ENSP00000512823.1:n.*793C=
ENST00000696705.1:c.*916C= ENSP00000512824.1:n.*916C=
ENST00000422285.7:c.*288C= MANE Select ENSP00000394382.2:n.*288C=
ENST00000379806.9:c.*288C= ENSP00000369134.5:n.*288C=
ENST00000422285.6:c.*288C= ENSP00000394382.2:n.*288C=
ENST00000540249.5:c.*288C= ENSP00000440761.1:n.*288C=
ENST00000545074.5:c.*288C= ENSP00000438550.1:n.*288C=
NM_000284.3:c.*288C= NP_000275.1:n.*288C=
NM_001173454.1:c.*288C= NP_001166925.1:n.*288C=
NM_001173455.1:c.*288C= NP_001166926.1:n.*288C=
NM_001173456.1:c.*288C= NP_001166927.1:n.*288C=
XM_011545531.1:c.*288C= XP_011543833.1:n.*288C=
XM_011545532.1:c.*288C= XP_011543834.1:n.*288C=
NM_000284.4:c.*288C= MANE Select NP_000275.1:n.*288C=
NM_001173454.2:c.*288C= NP_001166925.1:n.*288C=
NM_001173455.2:c.*288C= NP_001166926.1:n.*288C=
NM_001173456.2:c.*288C= NP_001166927.1:n.*288C=