Canonical Allele Identifier: CA412394452

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373516G>T (hg19) ; chrX:g.19355398G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355398G>T , CM000685.2:g.19355398G>T	GRCh38
NC_000023.10:g.19373516G>T , CM000685.1:g.19373516G>T	GRCh37
NC_000023.9:g.19283437G>T	NCBI36
NG_016781.1:g.16506G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.674G>T	ENSP00000348062.6:p.Cys225Phe
ENST00000379805.4:c.*345G>T	ENSP00000369133.3:n.*345G>T
ENST00000417819.6:c.737G>T	ENSP00000404616.2:p.Cys246Phe
ENST00000423505.6:c.767G>T	ENSP00000406473.2:p.Cys256Phe
ENST00000481733.2:n.448G>T
ENST00000696704.1:c.468G>T	ENSP00000512823.1:p.Leu156Phe
ENST00000696705.1:c.*108G>T	ENSP00000512824.1:n.*108G>T
ENST00000422285.7:c.653G>T MANE Select	ENSP00000394382.2:p.Cys218Phe
ENST00000379806.9:c.767G>T	ENSP00000369134.5:p.Cys256Phe
ENST00000422285.6:c.653G>T	ENSP00000394382.2:p.Cys218Phe
ENST00000479146.1:n.488G>T
ENST00000481733.1:n.81G>T
ENST00000540249.5:c.560G>T	ENSP00000440761.1:p.Cys187Phe
ENST00000545074.5:c.674G>T	ENSP00000438550.1:p.Cys225Phe
NM_000284.3:c.653G>T	NP_000275.1:p.Cys218Phe
NM_001173454.1:c.767G>T	NP_001166925.1:p.Cys256Phe
NM_001173455.1:c.674G>T	NP_001166926.1:p.Cys225Phe
NM_001173456.1:c.560G>T	NP_001166927.1:p.Cys187Phe
XM_011545531.1:c.788G>T	XP_011543833.1:p.Cys263Phe
XM_011545532.1:c.695G>T	XP_011543834.1:p.Cys232Phe
XM_017029574.2:c.674G>T	XP_016885063.1:p.Cys225Phe
NM_000284.4:c.653G>T MANE Select	NP_000275.1:p.Cys218Phe
NM_001173454.2:c.767G>T	NP_001166925.1:p.Cys256Phe
NM_001173455.2:c.674G>T	NP_001166926.1:p.Cys225Phe
NM_001173456.2:c.560G>T	NP_001166927.1:p.Cys187Phe