Canonical Allele Identifier: CA2499226551

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1112985
• ClinVar RCV Id: RCV001440182
• dbSNP Id: rs2147180716

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355341A>G , CM000685.2:g.19355341A>G	GRCh38
NC_000023.10:g.19373459A>G , CM000685.1:g.19373459A>G	GRCh37
NC_000023.9:g.19283380A>G	NCBI36
NG_016781.1:g.16449A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.625-8A>G	ENSP00000348062.6:n.625-8A>G
ENST00000379805.4:c.*296-8A>G	ENSP00000369133.3:n.*296-8A>G
ENST00000417819.6:c.688-8A>G	ENSP00000404616.2:n.688-8A>G
ENST00000423505.6:c.718-8A>G	ENSP00000406473.2:n.718-8A>G
ENST00000481733.2:n.391A>G
ENST00000696704.1:c.419-8A>G	ENSP00000512823.1:n.419-8A>G
ENST00000696705.1:c.*59-8A>G	ENSP00000512824.1:n.*59-8A>G
ENST00000422285.7:c.604-8A>G MANE Select	ENSP00000394382.2:n.604-8A>G
ENST00000379806.9:c.718-8A>G	ENSP00000369134.5:n.718-8A>G
ENST00000422285.6:c.604-8A>G	ENSP00000394382.2:n.604-8A>G
ENST00000479146.1:n.439-8A>G
ENST00000481733.1:n.24A>G
ENST00000540249.5:c.511-8A>G	ENSP00000440761.1:n.511-8A>G
ENST00000545074.5:c.625-8A>G	ENSP00000438550.1:n.625-8A>G
NM_000284.3:c.604-8A>G	NP_000275.1:n.604-8A>G
NM_001173454.1:c.718-8A>G	NP_001166925.1:n.718-8A>G
NM_001173455.1:c.625-8A>G	NP_001166926.1:n.625-8A>G
NM_001173456.1:c.511-8A>G	NP_001166927.1:n.511-8A>G
XM_011545531.1:c.739-8A>G	XP_011543833.1:n.739-8A>G
XM_011545532.1:c.646-8A>G	XP_011543834.1:n.646-8A>G
XM_017029574.2:c.625-8A>G	XP_016885063.1:n.625-8A>G
NM_000284.4:c.604-8A>G MANE Select	NP_000275.1:n.604-8A>G
NM_001173454.2:c.718-8A>G	NP_001166925.1:n.718-8A>G
NM_001173455.2:c.625-8A>G	NP_001166926.1:n.625-8A>G
NM_001173456.2:c.511-8A>G	NP_001166927.1:n.511-8A>G