Canonical Allele Identifier: CA412394691

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355499C>G , CM000685.2:g.19355499C>G	GRCh38
NC_000023.10:g.19373617C>G , CM000685.1:g.19373617C>G	GRCh37
NC_000023.9:g.19283538C>G	NCBI36
NG_016781.1:g.16607C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000284.4:c.754C>G MANE Select	NP_000275.1:p.Leu252Val
ENST00000422285.7:c.754C>G MANE Select	ENSP00000394382.2:p.Leu252Val
NM_000284.3:c.754C>G	NP_000275.1:p.Leu252Val
NM_001173454.1:c.868C>G	NP_001166925.1:p.Leu290Val
NM_001173454.2:c.868C>G	NP_001166925.1:p.Leu290Val
NM_001173455.1:c.775C>G	NP_001166926.1:p.Leu259Val
NM_001173455.2:c.775C>G	NP_001166926.1:p.Leu259Val
NM_001173456.1:c.661C>G	NP_001166927.1:p.Leu221Val
NM_001173456.2:c.661C>G	NP_001166927.1:p.Leu221Val
ENST00000355808.10:c.775C>G	ENSP00000348062.6:p.Leu259Val
ENST00000379805.4:c.*446C>G	ENSP00000369133.3:n.*446C>G
ENST00000379806.9:c.868C>G	ENSP00000369134.5:p.Leu290Val
ENST00000417819.6:c.838C>G	ENSP00000404616.2:p.Leu280Val
ENST00000422285.6:c.754C>G	ENSP00000394382.2:p.Leu252Val
ENST00000423505.6:c.868C>G	ENSP00000406473.2:p.Leu290Val
ENST00000481733.1:n.182C>G
ENST00000481733.2:n.549C>G
ENST00000540249.5:c.661C>G	ENSP00000440761.1:p.Leu221Val
ENST00000545074.5:c.775C>G	ENSP00000438550.1:p.Leu259Val
ENST00000696704.1:c.*86C>G	ENSP00000512823.1:n.*86C>G
ENST00000696705.1:c.*209C>G	ENSP00000512824.1:n.*209C>G
XM_011545531.1:c.889C>G	XP_011543833.1:p.Leu297Val
XM_011545532.1:c.796C>G	XP_011543834.1:p.Leu266Val
XM_017029574.2:c.775C>G	XP_016885063.1:p.Leu259Val