Canonical Allele Identifier: CA515486010

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373520T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355402T>A , CM000685.2:g.19355402T>A	GRCh38
NC_000023.10:g.19373520T>A , CM000685.1:g.19373520T>A	GRCh37
NC_000023.9:g.19283441T>A	NCBI36
NG_016781.1:g.16510T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.678T>A	ENSP00000348062.6:p.Ile226=
ENST00000379805.4:c.*349T>A	ENSP00000369133.3:n.*349T>A
ENST00000417819.6:c.741T>A	ENSP00000404616.2:p.Ile247=
ENST00000423505.6:c.771T>A	ENSP00000406473.2:p.Ile257=
ENST00000481733.2:n.452T>A
ENST00000696704.1:c.472T>A	ENSP00000512823.1:p.Phe158Ile
ENST00000696705.1:c.*112T>A	ENSP00000512824.1:n.*112T>A
ENST00000422285.7:c.657T>A MANE Select	ENSP00000394382.2:p.Ile219=
ENST00000379806.9:c.771T>A	ENSP00000369134.5:p.Ile257=
ENST00000422285.6:c.657T>A	ENSP00000394382.2:p.Ile219=
ENST00000479146.1:n.492T>A
ENST00000481733.1:n.85T>A
ENST00000540249.5:c.564T>A	ENSP00000440761.1:p.Ile188=
ENST00000545074.5:c.678T>A	ENSP00000438550.1:p.Ile226=
NM_000284.3:c.657T>A	NP_000275.1:p.Ile219=
NM_001173454.1:c.771T>A	NP_001166925.1:p.Ile257=
NM_001173455.1:c.678T>A	NP_001166926.1:p.Ile226=
NM_001173456.1:c.564T>A	NP_001166927.1:p.Ile188=
XM_011545531.1:c.792T>A	XP_011543833.1:p.Ile264=
XM_011545532.1:c.699T>A	XP_011543834.1:p.Ile233=
XM_017029574.2:c.678T>A	XP_016885063.1:p.Ile226=
NM_000284.4:c.657T>A MANE Select	NP_000275.1:p.Ile219=
NM_001173454.2:c.771T>A	NP_001166925.1:p.Ile257=
NM_001173455.2:c.678T>A	NP_001166926.1:p.Ile226=
NM_001173456.2:c.564T>A	NP_001166927.1:p.Ile188=