Canonical Allele Identifier: CA412394485

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373528G>T (hg19) ; chrX:g.19355410G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355410G>T , CM000685.2:g.19355410G>T	GRCh38
NC_000023.10:g.19373528G>T , CM000685.1:g.19373528G>T	GRCh37
NC_000023.9:g.19283449G>T	NCBI36
NG_016781.1:g.16518G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.686G>T	ENSP00000348062.6:p.Cys229Phe
ENST00000379805.4:c.*357G>T	ENSP00000369133.3:n.*357G>T
ENST00000417819.6:c.749G>T	ENSP00000404616.2:p.Cys250Phe
ENST00000423505.6:c.779G>T	ENSP00000406473.2:p.Cys260Phe
ENST00000481733.2:n.460G>T
ENST00000696704.1:c.480G>T	ENSP00000512823.1:p.Leu160=
ENST00000696705.1:c.*120G>T	ENSP00000512824.1:n.*120G>T
ENST00000422285.7:c.665G>T MANE Select	ENSP00000394382.2:p.Cys222Phe
ENST00000379806.9:c.779G>T	ENSP00000369134.5:p.Cys260Phe
ENST00000422285.6:c.665G>T	ENSP00000394382.2:p.Cys222Phe
ENST00000479146.1:n.500G>T
ENST00000481733.1:n.93G>T
ENST00000540249.5:c.572G>T	ENSP00000440761.1:p.Cys191Phe
ENST00000545074.5:c.686G>T	ENSP00000438550.1:p.Cys229Phe
NM_000284.3:c.665G>T	NP_000275.1:p.Cys222Phe
NM_001173454.1:c.779G>T	NP_001166925.1:p.Cys260Phe
NM_001173455.1:c.686G>T	NP_001166926.1:p.Cys229Phe
NM_001173456.1:c.572G>T	NP_001166927.1:p.Cys191Phe
XM_011545531.1:c.800G>T	XP_011543833.1:p.Cys267Phe
XM_011545532.1:c.707G>T	XP_011543834.1:p.Cys236Phe
XM_017029574.2:c.686G>T	XP_016885063.1:p.Cys229Phe
NM_000284.4:c.665G>T MANE Select	NP_000275.1:p.Cys222Phe
NM_001173454.2:c.779G>T	NP_001166925.1:p.Cys260Phe
NM_001173455.2:c.686G>T	NP_001166926.1:p.Cys229Phe
NM_001173456.2:c.572G>T	NP_001166927.1:p.Cys191Phe