Canonical Allele Identifier: CA412394763

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373826G>T (hg19) ; chrX:g.19355708G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355708G>T , CM000685.2:g.19355708G>T	GRCh38
NC_000023.10:g.19373826G>T , CM000685.1:g.19373826G>T	GRCh37
NC_000023.9:g.19283747G>T	NCBI36
NG_016781.1:g.16816G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.803G>T	ENSP00000348062.6:p.Cys268Phe
ENST00000379805.4:c.*474G>T	ENSP00000369133.3:n.*474G>T
ENST00000417819.6:c.866G>T	ENSP00000404616.2:p.Cys289Phe
ENST00000423505.6:c.896G>T	ENSP00000406473.2:p.Cys299Phe
ENST00000481733.2:n.577G>T
ENST00000696704.1:c.*114G>T	ENSP00000512823.1:n.*114G>T
ENST00000696705.1:c.*237G>T	ENSP00000512824.1:n.*237G>T
ENST00000422285.7:c.782G>T MANE Select	ENSP00000394382.2:p.Cys261Phe
ENST00000379804.1:c.-62G>T	ENSP00000369132.1:n.-62G>T
ENST00000379806.9:c.896G>T	ENSP00000369134.5:p.Cys299Phe
ENST00000422285.6:c.782G>T	ENSP00000394382.2:p.Cys261Phe
ENST00000481733.1:n.210G>T
ENST00000540249.5:c.689G>T	ENSP00000440761.1:p.Cys230Phe
ENST00000545074.5:c.803G>T	ENSP00000438550.1:p.Cys268Phe
NM_000284.3:c.782G>T	NP_000275.1:p.Cys261Phe
NM_001173454.1:c.896G>T	NP_001166925.1:p.Cys299Phe
NM_001173455.1:c.803G>T	NP_001166926.1:p.Cys268Phe
NM_001173456.1:c.689G>T	NP_001166927.1:p.Cys230Phe
XM_011545531.1:c.917G>T	XP_011543833.1:p.Cys306Phe
XM_011545532.1:c.824G>T	XP_011543834.1:p.Cys275Phe
XM_017029574.2:c.803G>T	XP_016885063.1:p.Cys268Phe
NM_000284.4:c.782G>T MANE Select	NP_000275.1:p.Cys261Phe
NM_001173454.2:c.896G>T	NP_001166925.1:p.Cys299Phe
NM_001173455.2:c.803G>T	NP_001166926.1:p.Cys268Phe
NM_001173456.2:c.689G>T	NP_001166927.1:p.Cys230Phe