Canonical Allele Identifier: CA412394780

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373835A>T (hg19) ; chrX:g.19355717A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355717A>T , CM000685.2:g.19355717A>T	GRCh38
NC_000023.10:g.19373835A>T , CM000685.1:g.19373835A>T	GRCh37
NC_000023.9:g.19283756A>T	NCBI36
NG_016781.1:g.16825A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.812A>T	ENSP00000348062.6:p.Glu271Val
ENST00000379805.4:c.*483A>T	ENSP00000369133.3:n.*483A>T
ENST00000417819.6:c.875A>T	ENSP00000404616.2:p.Glu292Val
ENST00000423505.6:c.905A>T	ENSP00000406473.2:p.Glu302Val
ENST00000481733.2:n.586A>T
ENST00000696704.1:c.*123A>T	ENSP00000512823.1:n.*123A>T
ENST00000696705.1:c.*246A>T	ENSP00000512824.1:n.*246A>T
ENST00000422285.7:c.791A>T MANE Select	ENSP00000394382.2:p.Glu264Val
ENST00000379804.1:c.-53A>T	ENSP00000369132.1:n.-53A>T
ENST00000379806.9:c.905A>T	ENSP00000369134.5:p.Glu302Val
ENST00000422285.6:c.791A>T	ENSP00000394382.2:p.Glu264Val
ENST00000481733.1:n.219A>T
ENST00000540249.5:c.698A>T	ENSP00000440761.1:p.Glu233Val
ENST00000545074.5:c.812A>T	ENSP00000438550.1:p.Glu271Val
NM_000284.3:c.791A>T	NP_000275.1:p.Glu264Val
NM_001173454.1:c.905A>T	NP_001166925.1:p.Glu302Val
NM_001173455.1:c.812A>T	NP_001166926.1:p.Glu271Val
NM_001173456.1:c.698A>T	NP_001166927.1:p.Glu233Val
XM_011545531.1:c.926A>T	XP_011543833.1:p.Glu309Val
XM_011545532.1:c.833A>T	XP_011543834.1:p.Glu278Val
XM_017029574.2:c.812A>T	XP_016885063.1:p.Glu271Val
NM_000284.4:c.791A>T MANE Select	NP_000275.1:p.Glu264Val
NM_001173454.2:c.905A>T	NP_001166925.1:p.Glu302Val
NM_001173455.2:c.812A>T	NP_001166926.1:p.Glu271Val
NM_001173456.2:c.698A>T	NP_001166927.1:p.Glu233Val