Canonical Allele Identifier: CA412394285

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373480A>C (hg19) ; chrX:g.19355362A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355362A>C , CM000685.2:g.19355362A>C	GRCh38
NC_000023.10:g.19373480A>C , CM000685.1:g.19373480A>C	GRCh37
NC_000023.9:g.19283401A>C	NCBI36
NG_016781.1:g.16470A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.638A>C	ENSP00000348062.6:p.Glu213Ala
ENST00000379805.4:c.*309A>C	ENSP00000369133.3:n.*309A>C
ENST00000417819.6:c.701A>C	ENSP00000404616.2:p.Glu234Ala
ENST00000423505.6:c.731A>C	ENSP00000406473.2:p.Glu244Ala
ENST00000481733.2:n.412A>C
ENST00000696704.1:c.432A>C	ENSP00000512823.1:p.Arg144=
ENST00000696705.1:c.*72A>C	ENSP00000512824.1:n.*72A>C
ENST00000422285.7:c.617A>C MANE Select	ENSP00000394382.2:p.Glu206Ala
ENST00000379806.9:c.731A>C	ENSP00000369134.5:p.Glu244Ala
ENST00000422285.6:c.617A>C	ENSP00000394382.2:p.Glu206Ala
ENST00000479146.1:n.452A>C
ENST00000481733.1:n.45A>C
ENST00000540249.5:c.524A>C	ENSP00000440761.1:p.Glu175Ala
ENST00000545074.5:c.638A>C	ENSP00000438550.1:p.Glu213Ala
NM_000284.3:c.617A>C	NP_000275.1:p.Glu206Ala
NM_001173454.1:c.731A>C	NP_001166925.1:p.Glu244Ala
NM_001173455.1:c.638A>C	NP_001166926.1:p.Glu213Ala
NM_001173456.1:c.524A>C	NP_001166927.1:p.Glu175Ala
XM_011545531.1:c.752A>C	XP_011543833.1:p.Glu251Ala
XM_011545532.1:c.659A>C	XP_011543834.1:p.Glu220Ala
XM_017029574.2:c.638A>C	XP_016885063.1:p.Glu213Ala
NM_000284.4:c.617A>C MANE Select	NP_000275.1:p.Glu206Ala
NM_001173454.2:c.731A>C	NP_001166925.1:p.Glu244Ala
NM_001173455.2:c.638A>C	NP_001166926.1:p.Glu213Ala
NM_001173456.2:c.524A>C	NP_001166927.1:p.Glu175Ala