Canonical Allele Identifier: CA412394290

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373481A>C (hg19) ; chrX:g.19355363A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355363A>C , CM000685.2:g.19355363A>C	GRCh38
NC_000023.10:g.19373481A>C , CM000685.1:g.19373481A>C	GRCh37
NC_000023.9:g.19283402A>C	NCBI36
NG_016781.1:g.16471A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.639A>C	ENSP00000348062.6:p.Glu213Asp
ENST00000379805.4:c.*310A>C	ENSP00000369133.3:n.*310A>C
ENST00000417819.6:c.702A>C	ENSP00000404616.2:p.Glu234Asp
ENST00000423505.6:c.732A>C	ENSP00000406473.2:p.Glu244Asp
ENST00000481733.2:n.413A>C
ENST00000696704.1:c.433A>C	ENSP00000512823.1:p.Ser145Arg
ENST00000696705.1:c.*73A>C	ENSP00000512824.1:n.*73A>C
ENST00000422285.7:c.618A>C MANE Select	ENSP00000394382.2:p.Glu206Asp
ENST00000379806.9:c.732A>C	ENSP00000369134.5:p.Glu244Asp
ENST00000422285.6:c.618A>C	ENSP00000394382.2:p.Glu206Asp
ENST00000479146.1:n.453A>C
ENST00000481733.1:n.46A>C
ENST00000540249.5:c.525A>C	ENSP00000440761.1:p.Glu175Asp
ENST00000545074.5:c.639A>C	ENSP00000438550.1:p.Glu213Asp
NM_000284.3:c.618A>C	NP_000275.1:p.Glu206Asp
NM_001173454.1:c.732A>C	NP_001166925.1:p.Glu244Asp
NM_001173455.1:c.639A>C	NP_001166926.1:p.Glu213Asp
NM_001173456.1:c.525A>C	NP_001166927.1:p.Glu175Asp
XM_011545531.1:c.753A>C	XP_011543833.1:p.Glu251Asp
XM_011545532.1:c.660A>C	XP_011543834.1:p.Glu220Asp
XM_017029574.2:c.639A>C	XP_016885063.1:p.Glu213Asp
NM_000284.4:c.618A>C MANE Select	NP_000275.1:p.Glu206Asp
NM_001173454.2:c.732A>C	NP_001166925.1:p.Glu244Asp
NM_001173455.2:c.639A>C	NP_001166926.1:p.Glu213Asp
NM_001173456.2:c.525A>C	NP_001166927.1:p.Glu175Asp