Canonical Allele Identifier: CA412394646

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2118044
• ClinVar RCV Id: RCV003030280
• MyVariant Identifiers: chrX:g.19373597G>C (hg19) ; chrX:g.19355479G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355479G>C , CM000685.2:g.19355479G>C	GRCh38
NC_000023.10:g.19373597G>C , CM000685.1:g.19373597G>C	GRCh37
NC_000023.9:g.19283518G>C	NCBI36
NG_016781.1:g.16587G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.755G>C	ENSP00000348062.6:p.Arg252Thr
ENST00000379805.4:c.*426G>C	ENSP00000369133.3:n.*426G>C
ENST00000417819.6:c.818G>C	ENSP00000404616.2:p.Arg273Thr
ENST00000423505.6:c.848G>C	ENSP00000406473.2:p.Arg283Thr
ENST00000481733.2:n.529G>C
ENST00000696704.1:c.*66G>C	ENSP00000512823.1:n.*66G>C
ENST00000696705.1:c.*189G>C	ENSP00000512824.1:n.*189G>C
ENST00000422285.7:c.734G>C MANE Select	ENSP00000394382.2:p.Arg245Thr
ENST00000379806.9:c.848G>C	ENSP00000369134.5:p.Arg283Thr
ENST00000422285.6:c.734G>C	ENSP00000394382.2:p.Arg245Thr
ENST00000481733.1:n.162G>C
ENST00000540249.5:c.641G>C	ENSP00000440761.1:p.Arg214Thr
ENST00000545074.5:c.755G>C	ENSP00000438550.1:p.Arg252Thr
NM_000284.3:c.734G>C	NP_000275.1:p.Arg245Thr
NM_001173454.1:c.848G>C	NP_001166925.1:p.Arg283Thr
NM_001173455.1:c.755G>C	NP_001166926.1:p.Arg252Thr
NM_001173456.1:c.641G>C	NP_001166927.1:p.Arg214Thr
XM_011545531.1:c.869G>C	XP_011543833.1:p.Arg290Thr
XM_011545532.1:c.776G>C	XP_011543834.1:p.Arg259Thr
XM_017029574.2:c.755G>C	XP_016885063.1:p.Arg252Thr
NM_000284.4:c.734G>C MANE Select	NP_000275.1:p.Arg245Thr
NM_001173454.2:c.848G>C	NP_001166925.1:p.Arg283Thr
NM_001173455.2:c.755G>C	NP_001166926.1:p.Arg252Thr
NM_001173456.2:c.641G>C	NP_001166927.1:p.Arg214Thr