Canonical Allele Identifier: CA412394466

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373520T>G (hg19) ; chrX:g.19355402T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.678T>G	ENSP00000348062.6:p.Ile226Met
ENST00000379805.4:c.*349T>G	ENSP00000369133.3:n.*349T>G
ENST00000417819.6:c.741T>G	ENSP00000404616.2:p.Ile247Met
ENST00000423505.6:c.771T>G	ENSP00000406473.2:p.Ile257Met
ENST00000481733.2:n.452T>G
ENST00000696704.1:c.472T>G	ENSP00000512823.1:p.Phe158Val
ENST00000696705.1:c.*112T>G	ENSP00000512824.1:n.*112T>G
ENST00000422285.7:c.657T>G MANE Select	ENSP00000394382.2:p.Ile219Met
ENST00000379806.9:c.771T>G	ENSP00000369134.5:p.Ile257Met
ENST00000422285.6:c.657T>G	ENSP00000394382.2:p.Ile219Met
ENST00000479146.1:n.492T>G
ENST00000481733.1:n.85T>G
ENST00000540249.5:c.564T>G	ENSP00000440761.1:p.Ile188Met
ENST00000545074.5:c.678T>G	ENSP00000438550.1:p.Ile226Met
NM_000284.3:c.657T>G	NP_000275.1:p.Ile219Met
NM_001173454.1:c.771T>G	NP_001166925.1:p.Ile257Met
NM_001173455.1:c.678T>G	NP_001166926.1:p.Ile226Met
NM_001173456.1:c.564T>G	NP_001166927.1:p.Ile188Met
XM_011545531.1:c.792T>G	XP_011543833.1:p.Ile264Met
XM_011545532.1:c.699T>G	XP_011543834.1:p.Ile233Met
XM_017029574.2:c.678T>G	XP_016885063.1:p.Ile226Met
NM_000284.4:c.657T>G MANE Select	NP_000275.1:p.Ile219Met
NM_001173454.2:c.771T>G	NP_001166925.1:p.Ile257Met
NM_001173455.2:c.678T>G	NP_001166926.1:p.Ile226Met
NM_001173456.2:c.564T>G	NP_001166927.1:p.Ile188Met