Canonical Allele Identifier: CA412393929

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19354515C>G , CM000685.2:g.19354515C>G	GRCh38
NC_000023.10:g.19372633C>G , CM000685.1:g.19372633C>G	GRCh37
NC_000023.9:g.19282554C>G	NCBI36
NG_016781.1:g.15623C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000284.4:c.535C>G MANE Select	NP_000275.1:p.Leu179Val
ENST00000422285.7:c.535C>G MANE Select	ENSP00000394382.2:p.Leu179Val
NM_000284.3:c.535C>G	NP_000275.1:p.Leu179Val
NM_001173454.1:c.649C>G	NP_001166925.1:p.Leu217Val
NM_001173454.2:c.649C>G	NP_001166925.1:p.Leu217Val
NM_001173455.1:c.556C>G	NP_001166926.1:p.Leu186Val
NM_001173455.2:c.556C>G	NP_001166926.1:p.Leu186Val
NM_001173456.1:c.511-834C>G	NP_001166927.1:n.511-834C>G
NM_001173456.2:c.511-834C>G	NP_001166927.1:n.511-834C>G
ENST00000355808.10:c.556C>G	ENSP00000348062.6:p.Leu186Val
ENST00000355808.9:c.556C>G	ENSP00000348062.5:p.Leu186Val
ENST00000379805.4:c.*227C>G	ENSP00000369133.3:n.*227C>G
ENST00000379806.9:c.649C>G	ENSP00000369134.5:p.Leu217Val
ENST00000417819.6:c.619C>G	ENSP00000404616.2:p.Leu207Val
ENST00000422285.6:c.535C>G	ENSP00000394382.2:p.Leu179Val
ENST00000423505.6:c.649C>G	ENSP00000406473.2:p.Leu217Val
ENST00000479146.1:n.370C>G
ENST00000540249.5:c.511-834C>G	ENSP00000440761.1:n.511-834C>G
ENST00000545074.5:c.556C>G	ENSP00000438550.1:p.Leu186Val
ENST00000696704.1:c.419-834C>G	ENSP00000512823.1:n.419-834C>G
ENST00000696705.1:c.443C>G	ENSP00000512824.1:p.Ser148Cys
XM_011545531.1:c.670C>G	XP_011543833.1:p.Leu224Val
XM_011545532.1:c.646-834C>G	XP_011543834.1:n.646-834C>G
XM_017029574.2:c.625-834C>G	XP_016885063.1:n.625-834C>G