Canonical Allele Identifier: CA412396092

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377051A>T (hg19) ; chrX:g.19358933A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358933A>T , CM000685.2:g.19358933A>T	GRCh38
NC_000023.10:g.19377051A>T , CM000685.1:g.19377051A>T	GRCh37
NC_000023.9:g.19286972A>T	NCBI36
NG_016781.1:g.20041A>T
NG_021184.1:g.161329T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.938A>T	ENSP00000348062.6:p.Glu313Val
ENST00000379805.4:c.*609A>T	ENSP00000369133.3:n.*609A>T
ENST00000417819.6:c.1001A>T	ENSP00000404616.2:p.Glu334Val
ENST00000423505.6:c.1031A>T	ENSP00000406473.2:p.Glu344Val
ENST00000481733.2:n.712A>T
ENST00000696704.1:c.*249A>T	ENSP00000512823.1:n.*249A>T
ENST00000696705.1:c.*372A>T	ENSP00000512824.1:n.*372A>T
ENST00000422285.7:c.917A>T MANE Select	ENSP00000394382.2:p.Glu306Val
ENST00000379804.1:c.74A>T	ENSP00000369132.1:p.Glu25Val
ENST00000379806.9:c.1031A>T	ENSP00000369134.5:p.Glu344Val
ENST00000422285.6:c.917A>T	ENSP00000394382.2:p.Glu306Val
ENST00000478795.1:n.356A>T
ENST00000481733.1:n.345A>T
ENST00000540249.5:c.824A>T	ENSP00000440761.1:p.Glu275Val
ENST00000545074.5:c.938A>T	ENSP00000438550.1:p.Glu313Val
NM_000284.3:c.917A>T	NP_000275.1:p.Glu306Val
NM_001173454.1:c.1031A>T	NP_001166925.1:p.Glu344Val
NM_001173455.1:c.938A>T	NP_001166926.1:p.Glu313Val
NM_001173456.1:c.824A>T	NP_001166927.1:p.Glu275Val
XM_011545531.1:c.1052A>T	XP_011543833.1:p.Glu351Val
XM_011545532.1:c.959A>T	XP_011543834.1:p.Glu320Val
XM_017029574.2:c.938A>T	XP_016885063.1:p.Glu313Val
NM_000284.4:c.917A>T MANE Select	NP_000275.1:p.Glu306Val
NM_001173454.2:c.1031A>T	NP_001166925.1:p.Glu344Val
NM_001173455.2:c.938A>T	NP_001166926.1:p.Glu313Val
NM_001173456.2:c.824A>T	NP_001166927.1:p.Glu275Val