Canonical Allele Identifier: CA412394875

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 871398
• ClinVar RCV Id: RCV001091319
• dbSNP Id: rs2063192913
• MyVariant Identifiers: chrX:g.19373877T>C (hg19) ; chrX:g.19355759T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355759T>C , CM000685.2:g.19355759T>C	GRCh38
NC_000023.10:g.19373877T>C , CM000685.1:g.19373877T>C	GRCh37
NC_000023.9:g.19283798T>C	NCBI36
NG_016781.1:g.16867T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.852+2T>C	ENSP00000348062.6:n.852+2T>C
ENST00000379805.4:c.*523+2T>C	ENSP00000369133.3:n.*523+2T>C
ENST00000417819.6:c.915+2T>C	ENSP00000404616.2:n.915+2T>C
ENST00000423505.6:c.945+2T>C	ENSP00000406473.2:n.945+2T>C
ENST00000481733.2:n.626+2T>C
ENST00000696704.1:c.*163+2T>C	ENSP00000512823.1:n.*163+2T>C
ENST00000696705.1:c.*286+2T>C	ENSP00000512824.1:n.*286+2T>C
ENST00000422285.7:c.831+2T>C MANE Select	ENSP00000394382.2:n.831+2T>C
ENST00000379804.1:c.-13+2T>C	ENSP00000369132.1:n.-13+2T>C
ENST00000379806.9:c.945+2T>C	ENSP00000369134.5:n.945+2T>C
ENST00000422285.6:c.831+2T>C	ENSP00000394382.2:n.831+2T>C
ENST00000481733.1:n.259+2T>C
ENST00000540249.5:c.738+2T>C	ENSP00000440761.1:n.738+2T>C
ENST00000545074.5:c.852+2T>C	ENSP00000438550.1:n.852+2T>C
NM_000284.3:c.831+2T>C	NP_000275.1:n.831+2T>C
NM_001173454.1:c.945+2T>C	NP_001166925.1:n.945+2T>C
NM_001173455.1:c.852+2T>C	NP_001166926.1:n.852+2T>C
NM_001173456.1:c.738+2T>C	NP_001166927.1:n.738+2T>C
XM_011545531.1:c.966+2T>C	XP_011543833.1:n.966+2T>C
XM_011545532.1:c.873+2T>C	XP_011543834.1:n.873+2T>C
XM_017029574.2:c.852+2T>C	XP_016885063.1:n.852+2T>C
NM_000284.4:c.831+2T>C MANE Select	NP_000275.1:n.831+2T>C
NM_001173454.2:c.945+2T>C	NP_001166925.1:n.945+2T>C
NM_001173455.2:c.852+2T>C	NP_001166926.1:n.852+2T>C
NM_001173456.2:c.738+2T>C	NP_001166927.1:n.738+2T>C