Canonical Allele Identifier: CA412394768

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2138485
• ClinVar RCV Id: RCV003050591
• MyVariant Identifiers: chrX:g.19373828G>T (hg19) ; chrX:g.19355710G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355710G>T , CM000685.2:g.19355710G>T	GRCh38
NC_000023.10:g.19373828G>T , CM000685.1:g.19373828G>T	GRCh37
NC_000023.9:g.19283749G>T	NCBI36
NG_016781.1:g.16818G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.805G>T	ENSP00000348062.6:p.Val269Phe
ENST00000379805.4:c.*476G>T	ENSP00000369133.3:n.*476G>T
ENST00000417819.6:c.868G>T	ENSP00000404616.2:p.Val290Phe
ENST00000423505.6:c.898G>T	ENSP00000406473.2:p.Val300Phe
ENST00000481733.2:n.579G>T
ENST00000696704.1:c.*116G>T	ENSP00000512823.1:n.*116G>T
ENST00000696705.1:c.*239G>T	ENSP00000512824.1:n.*239G>T
ENST00000422285.7:c.784G>T MANE Select	ENSP00000394382.2:p.Val262Phe
ENST00000379804.1:c.-60G>T	ENSP00000369132.1:n.-60G>T
ENST00000379806.9:c.898G>T	ENSP00000369134.5:p.Val300Phe
ENST00000422285.6:c.784G>T	ENSP00000394382.2:p.Val262Phe
ENST00000481733.1:n.212G>T
ENST00000540249.5:c.691G>T	ENSP00000440761.1:p.Val231Phe
ENST00000545074.5:c.805G>T	ENSP00000438550.1:p.Val269Phe
NM_000284.3:c.784G>T	NP_000275.1:p.Val262Phe
NM_001173454.1:c.898G>T	NP_001166925.1:p.Val300Phe
NM_001173455.1:c.805G>T	NP_001166926.1:p.Val269Phe
NM_001173456.1:c.691G>T	NP_001166927.1:p.Val231Phe
XM_011545531.1:c.919G>T	XP_011543833.1:p.Val307Phe
XM_011545532.1:c.826G>T	XP_011543834.1:p.Val276Phe
XM_017029574.2:c.805G>T	XP_016885063.1:p.Val269Phe
NM_000284.4:c.784G>T MANE Select	NP_000275.1:p.Val262Phe
NM_001173454.2:c.898G>T	NP_001166925.1:p.Val300Phe
NM_001173455.2:c.805G>T	NP_001166926.1:p.Val269Phe
NM_001173456.2:c.691G>T	NP_001166927.1:p.Val231Phe