Canonical Allele Identifier: CA412396292

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377136A>T (hg19) ; chrX:g.19359018A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359018A>T , CM000685.2:g.19359018A>T	GRCh38
NC_000023.10:g.19377136A>T , CM000685.1:g.19377136A>T	GRCh37
NC_000023.9:g.19287057A>T	NCBI36
NG_016781.1:g.20126A>T
NG_021184.1:g.161244T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1023A>T	ENSP00000348062.6:p.Glu341Asp
ENST00000379805.4:c.*694A>T	ENSP00000369133.3:n.*694A>T
ENST00000417819.6:c.1086A>T	ENSP00000404616.2:p.Glu362Asp
ENST00000423505.6:c.1116A>T	ENSP00000406473.2:p.Glu372Asp
ENST00000481733.2:n.797A>T
ENST00000696704.1:c.*334A>T	ENSP00000512823.1:n.*334A>T
ENST00000696705.1:c.*457A>T	ENSP00000512824.1:n.*457A>T
ENST00000422285.7:c.1002A>T MANE Select	ENSP00000394382.2:p.Glu334Asp
ENST00000379804.1:c.159A>T	ENSP00000369132.1:p.Glu53Asp
ENST00000379806.9:c.1116A>T	ENSP00000369134.5:p.Glu372Asp
ENST00000422285.6:c.1002A>T	ENSP00000394382.2:p.Glu334Asp
ENST00000478795.1:n.441A>T
ENST00000481733.1:n.430A>T
ENST00000540249.5:c.909A>T	ENSP00000440761.1:p.Glu303Asp
ENST00000545074.5:c.1023A>T	ENSP00000438550.1:p.Glu341Asp
NM_000284.3:c.1002A>T	NP_000275.1:p.Glu334Asp
NM_001173454.1:c.1116A>T	NP_001166925.1:p.Glu372Asp
NM_001173455.1:c.1023A>T	NP_001166926.1:p.Glu341Asp
NM_001173456.1:c.909A>T	NP_001166927.1:p.Glu303Asp
XM_011545531.1:c.1137A>T	XP_011543833.1:p.Glu379Asp
XM_011545532.1:c.1044A>T	XP_011543834.1:p.Glu348Asp
XM_017029574.2:c.1023A>T	XP_016885063.1:p.Glu341Asp
NM_000284.4:c.1002A>T MANE Select	NP_000275.1:p.Glu334Asp
NM_001173454.2:c.1116A>T	NP_001166925.1:p.Glu372Asp
NM_001173455.2:c.1023A>T	NP_001166926.1:p.Glu341Asp
NM_001173456.2:c.909A>T	NP_001166927.1:p.Glu303Asp