Canonical Allele Identifier: CA412394775

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2754877
• ClinVar RCV Id: RCV003510007
• dbSNP Id: rs2063192428
• gnomAD v4: X-19355714-G-T
• MyVariant Identifiers: chrX:g.19373832G>T (hg19) ; chrX:g.19355714G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355714G>T , CM000685.2:g.19355714G>T	GRCh38
NC_000023.10:g.19373832G>T , CM000685.1:g.19373832G>T	GRCh37
NC_000023.9:g.19283753G>T	NCBI36
NG_016781.1:g.16822G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.809G>T	ENSP00000348062.6:p.Arg270Leu
ENST00000379805.4:c.*480G>T	ENSP00000369133.3:n.*480G>T
ENST00000417819.6:c.872G>T	ENSP00000404616.2:p.Arg291Leu
ENST00000423505.6:c.902G>T	ENSP00000406473.2:p.Arg301Leu
ENST00000481733.2:n.583G>T
ENST00000696704.1:c.*120G>T	ENSP00000512823.1:n.*120G>T
ENST00000696705.1:c.*243G>T	ENSP00000512824.1:n.*243G>T
ENST00000422285.7:c.788G>T MANE Select	ENSP00000394382.2:p.Arg263Leu
ENST00000379804.1:c.-56G>T	ENSP00000369132.1:n.-56G>T
ENST00000379806.9:c.902G>T	ENSP00000369134.5:p.Arg301Leu
ENST00000422285.6:c.788G>T	ENSP00000394382.2:p.Arg263Leu
ENST00000481733.1:n.216G>T
ENST00000540249.5:c.695G>T	ENSP00000440761.1:p.Arg232Leu
ENST00000545074.5:c.809G>T	ENSP00000438550.1:p.Arg270Leu
NM_000284.3:c.788G>T	NP_000275.1:p.Arg263Leu
NM_001173454.1:c.902G>T	NP_001166925.1:p.Arg301Leu
NM_001173455.1:c.809G>T	NP_001166926.1:p.Arg270Leu
NM_001173456.1:c.695G>T	NP_001166927.1:p.Arg232Leu
XM_011545531.1:c.923G>T	XP_011543833.1:p.Arg308Leu
XM_011545532.1:c.830G>T	XP_011543834.1:p.Arg277Leu
XM_017029574.2:c.809G>T	XP_016885063.1:p.Arg270Leu
NM_000284.4:c.788G>T MANE Select	NP_000275.1:p.Arg263Leu
NM_001173454.2:c.902G>T	NP_001166925.1:p.Arg301Leu
NM_001173455.2:c.809G>T	NP_001166926.1:p.Arg270Leu
NM_001173456.2:c.695G>T	NP_001166927.1:p.Arg232Leu