Canonical Allele Identifier: CA412396284

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377133A>T (hg19) ; chrX:g.19359015A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359015A>T , CM000685.2:g.19359015A>T	GRCh38
NC_000023.10:g.19377133A>T , CM000685.1:g.19377133A>T	GRCh37
NC_000023.9:g.19287054A>T	NCBI36
NG_016781.1:g.20123A>T
NG_021184.1:g.161247T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1020A>T	ENSP00000348062.6:p.Glu340Asp
ENST00000379805.4:c.*691A>T	ENSP00000369133.3:n.*691A>T
ENST00000417819.6:c.1083A>T	ENSP00000404616.2:p.Glu361Asp
ENST00000423505.6:c.1113A>T	ENSP00000406473.2:p.Glu371Asp
ENST00000481733.2:n.794A>T
ENST00000696704.1:c.*331A>T	ENSP00000512823.1:n.*331A>T
ENST00000696705.1:c.*454A>T	ENSP00000512824.1:n.*454A>T
ENST00000422285.7:c.999A>T MANE Select	ENSP00000394382.2:p.Glu333Asp
ENST00000379804.1:c.156A>T	ENSP00000369132.1:p.Glu52Asp
ENST00000379806.9:c.1113A>T	ENSP00000369134.5:p.Glu371Asp
ENST00000422285.6:c.999A>T	ENSP00000394382.2:p.Glu333Asp
ENST00000478795.1:n.438A>T
ENST00000481733.1:n.427A>T
ENST00000540249.5:c.906A>T	ENSP00000440761.1:p.Glu302Asp
ENST00000545074.5:c.1020A>T	ENSP00000438550.1:p.Glu340Asp
NM_000284.3:c.999A>T	NP_000275.1:p.Glu333Asp
NM_001173454.1:c.1113A>T	NP_001166925.1:p.Glu371Asp
NM_001173455.1:c.1020A>T	NP_001166926.1:p.Glu340Asp
NM_001173456.1:c.906A>T	NP_001166927.1:p.Glu302Asp
XM_011545531.1:c.1134A>T	XP_011543833.1:p.Glu378Asp
XM_011545532.1:c.1041A>T	XP_011543834.1:p.Glu347Asp
XM_017029574.2:c.1020A>T	XP_016885063.1:p.Glu340Asp
NM_000284.4:c.999A>T MANE Select	NP_000275.1:p.Glu333Asp
NM_001173454.2:c.1113A>T	NP_001166925.1:p.Glu371Asp
NM_001173455.2:c.1020A>T	NP_001166926.1:p.Glu340Asp
NM_001173456.2:c.906A>T	NP_001166927.1:p.Glu302Asp