Canonical Allele Identifier: CA412395214

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1325820
• ClinVar RCV Id: RCV001785357
• dbSNP Id: rs2147184502
• MyVariant Identifiers: chrX:g.19375806C>T (hg19) ; chrX:g.19357688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357688C>T , CM000685.2:g.19357688C>T	GRCh38
NC_000023.10:g.19375806C>T , CM000685.1:g.19375806C>T	GRCh37
NC_000023.9:g.19285727C>T	NCBI36
NG_016781.1:g.18796C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.889C>T	ENSP00000348062.6:p.His297Tyr
ENST00000379805.4:c.*560C>T	ENSP00000369133.3:n.*560C>T
ENST00000417819.6:c.952C>T	ENSP00000404616.2:p.His318Tyr
ENST00000423505.6:c.982C>T	ENSP00000406473.2:p.His328Tyr
ENST00000481733.2:n.663C>T
ENST00000696704.1:c.*200C>T	ENSP00000512823.1:n.*200C>T
ENST00000696705.1:c.*323C>T	ENSP00000512824.1:n.*323C>T
ENST00000422285.7:c.868C>T MANE Select	ENSP00000394382.2:p.His290Tyr
ENST00000379804.1:c.25C>T	ENSP00000369132.1:p.His9Tyr
ENST00000379806.9:c.982C>T	ENSP00000369134.5:p.His328Tyr
ENST00000422285.6:c.868C>T	ENSP00000394382.2:p.His290Tyr
ENST00000478795.1:n.307C>T
ENST00000481733.1:n.296C>T
ENST00000540249.5:c.775C>T	ENSP00000440761.1:p.His259Tyr
ENST00000545074.5:c.889C>T	ENSP00000438550.1:p.His297Tyr
NM_000284.3:c.868C>T	NP_000275.1:p.His290Tyr
NM_001173454.1:c.982C>T	NP_001166925.1:p.His328Tyr
NM_001173455.1:c.889C>T	NP_001166926.1:p.His297Tyr
NM_001173456.1:c.775C>T	NP_001166927.1:p.His259Tyr
XM_011545531.1:c.1003C>T	XP_011543833.1:p.His335Tyr
XM_011545532.1:c.910C>T	XP_011543834.1:p.His304Tyr
XM_017029574.2:c.889C>T	XP_016885063.1:p.His297Tyr
NM_000284.4:c.868C>T MANE Select	NP_000275.1:p.His290Tyr
NM_001173454.2:c.982C>T	NP_001166925.1:p.His328Tyr
NM_001173455.2:c.889C>T	NP_001166926.1:p.His297Tyr
NM_001173456.2:c.775C>T	NP_001166927.1:p.His259Tyr