Canonical Allele Identifier: CA412393200

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 488568
• ClinVar RCV Id: RCV000578270
• dbSNP Id: rs1555933954
• COSMIC: COSM4713324 ; COSM4713325 ; COSM4713326 ; COSM4713327
• MyVariant Identifiers: chrX:g.19371236C>T (hg19) ; chrX:g.19353118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19353118C>T , CM000685.2:g.19353118C>T	GRCh38
NC_000023.10:g.19371236C>T , CM000685.1:g.19371236C>T	GRCh37
NC_000023.9:g.19281157C>T	NCBI36
NG_016781.1:g.14226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.476C>T	ENSP00000348062.6:p.Ser159Leu
ENST00000379805.4:c.455C>T	ENSP00000369133.3:p.Ser152Leu
ENST00000417819.6:c.539C>T	ENSP00000404616.2:p.Ser180Leu
ENST00000423505.6:c.569C>T	ENSP00000406473.2:p.Ser190Leu
ENST00000696704.1:c.418+1711C>T	ENSP00000512823.1:n.418+1711C>T
ENST00000696705.1:c.419-1373C>T	ENSP00000512824.1:n.419-1373C>T
ENST00000422285.7:c.455C>T MANE Select	ENSP00000394382.2:p.Ser152Leu
ENST00000355808.9:c.476C>T	ENSP00000348062.5:p.Ser159Leu
ENST00000379805.3:c.455C>T	ENSP00000369133.3:p.Ser152Leu
ENST00000379806.9:c.569C>T	ENSP00000369134.5:p.Ser190Leu
ENST00000422285.6:c.455C>T	ENSP00000394382.2:p.Ser152Leu
ENST00000423505.5:c.569C>T	ENSP00000406473.1:p.Ser190Leu
ENST00000479146.1:n.290C>T
ENST00000540249.5:c.455C>T	ENSP00000440761.1:p.Ser152Leu
ENST00000545074.5:c.476C>T	ENSP00000438550.1:p.Ser159Leu
NM_000284.3:c.455C>T	NP_000275.1:p.Ser152Leu
NM_001173454.1:c.569C>T	NP_001166925.1:p.Ser190Leu
NM_001173455.1:c.476C>T	NP_001166926.1:p.Ser159Leu
NM_001173456.1:c.455C>T	NP_001166927.1:p.Ser152Leu
XM_011545531.1:c.590C>T	XP_011543833.1:p.Ser197Leu
XM_011545532.1:c.590C>T	XP_011543834.1:p.Ser197Leu
XM_017029574.2:c.569C>T	XP_016885063.1:p.Ser190Leu
NM_000284.4:c.455C>T MANE Select	NP_000275.1:p.Ser152Leu
NM_001173454.2:c.569C>T	NP_001166925.1:p.Ser190Leu
NM_001173455.2:c.476C>T	NP_001166926.1:p.Ser159Leu
NM_001173456.2:c.455C>T	NP_001166927.1:p.Ser152Leu