Canonical Allele Identifier: CA412397477

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 3027229
• ClinVar RCV Id: RCV003887622
• MyVariant Identifiers: chrX:g.19377764T>C (hg19) ; chrX:g.19359646T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359646T>C , CM000685.2:g.19359646T>C	GRCh38
NC_000023.10:g.19377764T>C , CM000685.1:g.19377764T>C	GRCh37
NC_000023.9:g.19287685T>C	NCBI36
NG_016781.1:g.20754T>C
NG_021184.1:g.160616A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1187T>C	ENSP00000348062.6:p.Val396Ala
ENST00000379805.4:c.*858T>C	ENSP00000369133.3:n.*858T>C
ENST00000417819.6:c.1250T>C	ENSP00000404616.2:p.Val417Ala
ENST00000423505.6:c.1280T>C	ENSP00000406473.2:p.Val427Ala
ENST00000481733.2:n.961T>C
ENST00000696704.1:c.*498T>C	ENSP00000512823.1:n.*498T>C
ENST00000696705.1:c.*621T>C	ENSP00000512824.1:n.*621T>C
ENST00000422285.7:c.1166T>C MANE Select	ENSP00000394382.2:p.Val389Ala
ENST00000379804.1:c.323T>C	ENSP00000369132.1:p.Val108Ala
ENST00000379806.9:c.1280T>C	ENSP00000369134.5:p.Val427Ala
ENST00000422285.6:c.1166T>C	ENSP00000394382.2:p.Val389Ala
ENST00000478795.1:n.605T>C
ENST00000540249.5:c.1073T>C	ENSP00000440761.1:p.Val358Ala
ENST00000545074.5:c.1187T>C	ENSP00000438550.1:p.Val396Ala
NM_000284.3:c.1166T>C	NP_000275.1:p.Val389Ala
NM_001173454.1:c.1280T>C	NP_001166925.1:p.Val427Ala
NM_001173455.1:c.1187T>C	NP_001166926.1:p.Val396Ala
NM_001173456.1:c.1073T>C	NP_001166927.1:p.Val358Ala
XM_011545531.1:c.1301T>C	XP_011543833.1:p.Val434Ala
XM_011545532.1:c.1208T>C	XP_011543834.1:p.Val403Ala
XM_017029574.2:c.1187T>C	XP_016885063.1:p.Val396Ala
NM_000284.4:c.1166T>C MANE Select	NP_000275.1:p.Val389Ala
NM_001173454.2:c.1280T>C	NP_001166925.1:p.Val427Ala
NM_001173455.2:c.1187T>C	NP_001166926.1:p.Val396Ala
NM_001173456.2:c.1073T>C	NP_001166927.1:p.Val358Ala