Canonical Allele Identifier: CA515486013

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373532G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355414G>A , CM000685.2:g.19355414G>A	GRCh38
NC_000023.10:g.19373532G>A , CM000685.1:g.19373532G>A	GRCh37
NC_000023.9:g.19283453G>A	NCBI36
NG_016781.1:g.16522G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.690G>A	ENSP00000348062.6:p.Glu230=
ENST00000379805.4:c.*361G>A	ENSP00000369133.3:n.*361G>A
ENST00000417819.6:c.753G>A	ENSP00000404616.2:p.Glu251=
ENST00000423505.6:c.783G>A	ENSP00000406473.2:p.Glu261=
ENST00000481733.2:n.464G>A
ENST00000696704.1:c.*1G>A	ENSP00000512823.1:n.*1G>A
ENST00000696705.1:c.*124G>A	ENSP00000512824.1:n.*124G>A
ENST00000422285.7:c.669G>A MANE Select	ENSP00000394382.2:p.Glu223=
ENST00000379806.9:c.783G>A	ENSP00000369134.5:p.Glu261=
ENST00000422285.6:c.669G>A	ENSP00000394382.2:p.Glu223=
ENST00000479146.1:n.504G>A
ENST00000481733.1:n.97G>A
ENST00000540249.5:c.576G>A	ENSP00000440761.1:p.Glu192=
ENST00000545074.5:c.690G>A	ENSP00000438550.1:p.Glu230=
NM_000284.3:c.669G>A	NP_000275.1:p.Glu223=
NM_001173454.1:c.783G>A	NP_001166925.1:p.Glu261=
NM_001173455.1:c.690G>A	NP_001166926.1:p.Glu230=
NM_001173456.1:c.576G>A	NP_001166927.1:p.Glu192=
XM_011545531.1:c.804G>A	XP_011543833.1:p.Glu268=
XM_011545532.1:c.711G>A	XP_011543834.1:p.Glu237=
XM_017029574.2:c.690G>A	XP_016885063.1:p.Glu230=
NM_000284.4:c.669G>A MANE Select	NP_000275.1:p.Glu223=
NM_001173454.2:c.783G>A	NP_001166925.1:p.Glu261=
NM_001173455.2:c.690G>A	NP_001166926.1:p.Glu230=
NM_001173456.2:c.576G>A	NP_001166927.1:p.Glu192=