Canonical Allele Identifier: CA2418225807
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359872G= , CM000685.2:g.19359872G= GRCh38
NC_000023.10:g.19377990G= , CM000685.1:g.19377990G= GRCh37
NC_000023.9:g.19287911G= NCBI36
NG_016781.1:g.20980G=
NG_021184.1:g.160390C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.*219G= ENSP00000348062.6:n.*219G=
ENST00000423505.6:c.*219G= ENSP00000406473.2:n.*219G=
ENST00000696704.1:c.*724G= ENSP00000512823.1:n.*724G=
ENST00000696705.1:c.*847G= ENSP00000512824.1:n.*847G=
ENST00000422285.7:c.*219G= MANE Select ENSP00000394382.2:n.*219G=
ENST00000379806.9:c.*219G= ENSP00000369134.5:n.*219G=
ENST00000422285.6:c.*219G= ENSP00000394382.2:n.*219G=
ENST00000540249.5:c.*219G= ENSP00000440761.1:n.*219G=
ENST00000545074.5:c.*219G= ENSP00000438550.1:n.*219G=
NM_000284.3:c.*219G= NP_000275.1:n.*219G=
NM_001173454.1:c.*219G= NP_001166925.1:n.*219G=
NM_001173455.1:c.*219G= NP_001166926.1:n.*219G=
NM_001173456.1:c.*219G= NP_001166927.1:n.*219G=
XM_011545531.1:c.*219G= XP_011543833.1:n.*219G=
XM_011545532.1:c.*219G= XP_011543834.1:n.*219G=
NM_000284.4:c.*219G= MANE Select NP_000275.1:n.*219G=
NM_001173454.2:c.*219G= NP_001166925.1:n.*219G=
NM_001173455.2:c.*219G= NP_001166926.1:n.*219G=
NM_001173456.2:c.*219G= NP_001166927.1:n.*219G=