Canonical Allele Identifier: CA412394318

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1320310
• ClinVar RCV Id: RCV001775482
• dbSNP Id: rs2147180742
• MyVariant Identifiers: chrX:g.19373487C>A (hg19) ; chrX:g.19355369C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355369C>A , CM000685.2:g.19355369C>A	GRCh38
NC_000023.10:g.19373487C>A , CM000685.1:g.19373487C>A	GRCh37
NC_000023.9:g.19283408C>A	NCBI36
NG_016781.1:g.16477C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.645C>A	ENSP00000348062.6:p.Tyr215Ter
ENST00000379805.4:c.*316C>A	ENSP00000369133.3:n.*316C>A
ENST00000417819.6:c.708C>A	ENSP00000404616.2:p.Tyr236Ter
ENST00000423505.6:c.738C>A	ENSP00000406473.2:p.Tyr246Ter
ENST00000481733.2:n.419C>A
ENST00000696704.1:c.439C>A	ENSP00000512823.1:p.Gln147Lys
ENST00000696705.1:c.*79C>A	ENSP00000512824.1:n.*79C>A
ENST00000422285.7:c.624C>A MANE Select	ENSP00000394382.2:p.Tyr208Ter
ENST00000379806.9:c.738C>A	ENSP00000369134.5:p.Tyr246Ter
ENST00000422285.6:c.624C>A	ENSP00000394382.2:p.Tyr208Ter
ENST00000479146.1:n.459C>A
ENST00000481733.1:n.52C>A
ENST00000540249.5:c.531C>A	ENSP00000440761.1:p.Tyr177Ter
ENST00000545074.5:c.645C>A	ENSP00000438550.1:p.Tyr215Ter
NM_000284.3:c.624C>A	NP_000275.1:p.Tyr208Ter
NM_001173454.1:c.738C>A	NP_001166925.1:p.Tyr246Ter
NM_001173455.1:c.645C>A	NP_001166926.1:p.Tyr215Ter
NM_001173456.1:c.531C>A	NP_001166927.1:p.Tyr177Ter
XM_011545531.1:c.759C>A	XP_011543833.1:p.Tyr253Ter
XM_011545532.1:c.666C>A	XP_011543834.1:p.Tyr222Ter
XM_017029574.2:c.645C>A	XP_016885063.1:p.Tyr215Ter
NM_000284.4:c.624C>A MANE Select	NP_000275.1:p.Tyr208Ter
NM_001173454.2:c.738C>A	NP_001166925.1:p.Tyr246Ter
NM_001173455.2:c.645C>A	NP_001166926.1:p.Tyr215Ter
NM_001173456.2:c.531C>A	NP_001166927.1:p.Tyr177Ter