Canonical Allele Identifier: CA412395174

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375788C>G (hg19) ; chrX:g.19357670C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357670C>G , CM000685.2:g.19357670C>G	GRCh38
NC_000023.10:g.19375788C>G , CM000685.1:g.19375788C>G	GRCh37
NC_000023.9:g.19285709C>G	NCBI36
NG_016781.1:g.18778C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.871C>G	ENSP00000348062.6:p.Leu291Val
ENST00000379805.4:c.*542C>G	ENSP00000369133.3:n.*542C>G
ENST00000417819.6:c.934C>G	ENSP00000404616.2:p.Leu312Val
ENST00000423505.6:c.964C>G	ENSP00000406473.2:p.Leu322Val
ENST00000481733.2:n.645C>G
ENST00000696704.1:c.*182C>G	ENSP00000512823.1:n.*182C>G
ENST00000696705.1:c.*305C>G	ENSP00000512824.1:n.*305C>G
ENST00000422285.7:c.850C>G MANE Select	ENSP00000394382.2:p.Leu284Val
ENST00000379804.1:c.7C>G	ENSP00000369132.1:p.Leu3Val
ENST00000379806.9:c.964C>G	ENSP00000369134.5:p.Leu322Val
ENST00000422285.6:c.850C>G	ENSP00000394382.2:p.Leu284Val
ENST00000478795.1:n.289C>G
ENST00000481733.1:n.278C>G
ENST00000540249.5:c.757C>G	ENSP00000440761.1:p.Leu253Val
ENST00000545074.5:c.871C>G	ENSP00000438550.1:p.Leu291Val
NM_000284.3:c.850C>G	NP_000275.1:p.Leu284Val
NM_001173454.1:c.964C>G	NP_001166925.1:p.Leu322Val
NM_001173455.1:c.871C>G	NP_001166926.1:p.Leu291Val
NM_001173456.1:c.757C>G	NP_001166927.1:p.Leu253Val
XM_011545531.1:c.985C>G	XP_011543833.1:p.Leu329Val
XM_011545532.1:c.892C>G	XP_011543834.1:p.Leu298Val
XM_017029574.2:c.871C>G	XP_016885063.1:p.Leu291Val
NM_000284.4:c.850C>G MANE Select	NP_000275.1:p.Leu284Val
NM_001173454.2:c.964C>G	NP_001166925.1:p.Leu322Val
NM_001173455.2:c.871C>G	NP_001166926.1:p.Leu291Val
NM_001173456.2:c.757C>G	NP_001166927.1:p.Leu253Val