Canonical Allele Identifier: CA412394493

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373531A>C (hg19) ; chrX:g.19355413A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355413A>C , CM000685.2:g.19355413A>C	GRCh38
NC_000023.10:g.19373531A>C , CM000685.1:g.19373531A>C	GRCh37
NC_000023.9:g.19283452A>C	NCBI36
NG_016781.1:g.16521A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.689A>C	ENSP00000348062.6:p.Glu230Ala
ENST00000379805.4:c.*360A>C	ENSP00000369133.3:n.*360A>C
ENST00000417819.6:c.752A>C	ENSP00000404616.2:p.Glu251Ala
ENST00000423505.6:c.782A>C	ENSP00000406473.2:p.Glu261Ala
ENST00000481733.2:n.463A>C
ENST00000696704.1:c.483A>C	ENSP00000512823.1:p.Ter161Cys
ENST00000696705.1:c.*123A>C	ENSP00000512824.1:n.*123A>C
ENST00000422285.7:c.668A>C MANE Select	ENSP00000394382.2:p.Glu223Ala
ENST00000379806.9:c.782A>C	ENSP00000369134.5:p.Glu261Ala
ENST00000422285.6:c.668A>C	ENSP00000394382.2:p.Glu223Ala
ENST00000479146.1:n.503A>C
ENST00000481733.1:n.96A>C
ENST00000540249.5:c.575A>C	ENSP00000440761.1:p.Glu192Ala
ENST00000545074.5:c.689A>C	ENSP00000438550.1:p.Glu230Ala
NM_000284.3:c.668A>C	NP_000275.1:p.Glu223Ala
NM_001173454.1:c.782A>C	NP_001166925.1:p.Glu261Ala
NM_001173455.1:c.689A>C	NP_001166926.1:p.Glu230Ala
NM_001173456.1:c.575A>C	NP_001166927.1:p.Glu192Ala
XM_011545531.1:c.803A>C	XP_011543833.1:p.Glu268Ala
XM_011545532.1:c.710A>C	XP_011543834.1:p.Glu237Ala
XM_017029574.2:c.689A>C	XP_016885063.1:p.Glu230Ala
NM_000284.4:c.668A>C MANE Select	NP_000275.1:p.Glu223Ala
NM_001173454.2:c.782A>C	NP_001166925.1:p.Glu261Ala
NM_001173455.2:c.689A>C	NP_001166926.1:p.Glu230Ala
NM_001173456.2:c.575A>C	NP_001166927.1:p.Glu192Ala