Canonical Allele Identifier: CA412391333

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19369510C>G (hg19) ; chrX:g.19351392C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19351392C>G , CM000685.2:g.19351392C>G	GRCh38
NC_000023.10:g.19369510C>G , CM000685.1:g.19369510C>G	GRCh37
NC_000023.9:g.19279431C>G	NCBI36
NG_016781.1:g.12500C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.424C>G	ENSP00000348062.6:p.Leu142Val
ENST00000379805.4:c.403C>G	ENSP00000369133.3:p.Leu135Val
ENST00000417819.6:c.487C>G	ENSP00000404616.2:p.Leu163Val
ENST00000423505.6:c.517C>G	ENSP00000406473.2:p.Leu173Val
ENST00000696704.1:c.403C>G	ENSP00000512823.1:p.Leu135Val
ENST00000696705.1:c.403C>G	ENSP00000512824.1:p.Leu135Val
ENST00000422285.7:c.403C>G MANE Select	ENSP00000394382.2:p.Leu135Val
ENST00000355808.9:c.424C>G	ENSP00000348062.5:p.Leu142Val
ENST00000379805.3:c.403C>G	ENSP00000369133.3:p.Leu135Val
ENST00000379806.9:c.517C>G	ENSP00000369134.5:p.Leu173Val
ENST00000422285.6:c.403C>G	ENSP00000394382.2:p.Leu135Val
ENST00000423505.5:c.517C>G	ENSP00000406473.1:p.Leu173Val
ENST00000492364.1:n.505C>G
ENST00000540249.5:c.403C>G	ENSP00000440761.1:p.Leu135Val
ENST00000545074.5:c.424C>G	ENSP00000438550.1:p.Leu142Val
NM_000284.3:c.403C>G	NP_000275.1:p.Leu135Val
NM_001173454.1:c.517C>G	NP_001166925.1:p.Leu173Val
NM_001173455.1:c.424C>G	NP_001166926.1:p.Leu142Val
NM_001173456.1:c.403C>G	NP_001166927.1:p.Leu135Val
XM_011545531.1:c.538C>G	XP_011543833.1:p.Leu180Val
XM_011545532.1:c.538C>G	XP_011543834.1:p.Leu180Val
XM_017029574.2:c.517C>G	XP_016885063.1:p.Leu173Val
NM_000284.4:c.403C>G MANE Select	NP_000275.1:p.Leu135Val
NM_001173454.2:c.517C>G	NP_001166925.1:p.Leu173Val
NM_001173455.2:c.424C>G	NP_001166926.1:p.Leu142Val
NM_001173456.2:c.403C>G	NP_001166927.1:p.Leu135Val