Canonical Allele Identifier: CA515485989

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373481A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.639A>G	ENSP00000348062.6:p.Glu213=
ENST00000379805.4:c.*310A>G	ENSP00000369133.3:n.*310A>G
ENST00000417819.6:c.702A>G	ENSP00000404616.2:p.Glu234=
ENST00000423505.6:c.732A>G	ENSP00000406473.2:p.Glu244=
ENST00000481733.2:n.413A>G
ENST00000696704.1:c.433A>G	ENSP00000512823.1:p.Ser145Gly
ENST00000696705.1:c.*73A>G	ENSP00000512824.1:n.*73A>G
ENST00000422285.7:c.618A>G MANE Select	ENSP00000394382.2:p.Glu206=
ENST00000379806.9:c.732A>G	ENSP00000369134.5:p.Glu244=
ENST00000422285.6:c.618A>G	ENSP00000394382.2:p.Glu206=
ENST00000479146.1:n.453A>G
ENST00000481733.1:n.46A>G
ENST00000540249.5:c.525A>G	ENSP00000440761.1:p.Glu175=
ENST00000545074.5:c.639A>G	ENSP00000438550.1:p.Glu213=
NM_000284.3:c.618A>G	NP_000275.1:p.Glu206=
NM_001173454.1:c.732A>G	NP_001166925.1:p.Glu244=
NM_001173455.1:c.639A>G	NP_001166926.1:p.Glu213=
NM_001173456.1:c.525A>G	NP_001166927.1:p.Glu175=
XM_011545531.1:c.753A>G	XP_011543833.1:p.Glu251=
XM_011545532.1:c.660A>G	XP_011543834.1:p.Glu220=
XM_017029574.2:c.639A>G	XP_016885063.1:p.Glu213=
NM_000284.4:c.618A>G MANE Select	NP_000275.1:p.Glu206=
NM_001173454.2:c.732A>G	NP_001166925.1:p.Glu244=
NM_001173455.2:c.639A>G	NP_001166926.1:p.Glu213=
NM_001173456.2:c.525A>G	NP_001166927.1:p.Glu175=