Canonical Allele Identifier: CA412394576

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373567G>A (hg19) ; chrX:g.19355449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355449G>A , CM000685.2:g.19355449G>A	GRCh38
NC_000023.10:g.19373567G>A , CM000685.1:g.19373567G>A	GRCh37
NC_000023.9:g.19283488G>A	NCBI36
NG_016781.1:g.16557G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.725G>A	ENSP00000348062.6:p.Arg242Lys
ENST00000379805.4:c.*396G>A	ENSP00000369133.3:n.*396G>A
ENST00000417819.6:c.788G>A	ENSP00000404616.2:p.Arg263Lys
ENST00000423505.6:c.818G>A	ENSP00000406473.2:p.Arg273Lys
ENST00000481733.2:n.499G>A
ENST00000696704.1:c.*36G>A	ENSP00000512823.1:n.*36G>A
ENST00000696705.1:c.*159G>A	ENSP00000512824.1:n.*159G>A
ENST00000422285.7:c.704G>A MANE Select	ENSP00000394382.2:p.Arg235Lys
ENST00000379806.9:c.818G>A	ENSP00000369134.5:p.Arg273Lys
ENST00000422285.6:c.704G>A	ENSP00000394382.2:p.Arg235Lys
ENST00000481733.1:n.132G>A
ENST00000540249.5:c.611G>A	ENSP00000440761.1:p.Arg204Lys
ENST00000545074.5:c.725G>A	ENSP00000438550.1:p.Arg242Lys
NM_000284.3:c.704G>A	NP_000275.1:p.Arg235Lys
NM_001173454.1:c.818G>A	NP_001166925.1:p.Arg273Lys
NM_001173455.1:c.725G>A	NP_001166926.1:p.Arg242Lys
NM_001173456.1:c.611G>A	NP_001166927.1:p.Arg204Lys
XM_011545531.1:c.839G>A	XP_011543833.1:p.Arg280Lys
XM_011545532.1:c.746G>A	XP_011543834.1:p.Arg249Lys
XM_017029574.2:c.725G>A	XP_016885063.1:p.Arg242Lys
NM_000284.4:c.704G>A MANE Select	NP_000275.1:p.Arg235Lys
NM_001173454.2:c.818G>A	NP_001166925.1:p.Arg273Lys
NM_001173455.2:c.725G>A	NP_001166926.1:p.Arg242Lys
NM_001173456.2:c.611G>A	NP_001166927.1:p.Arg204Lys