Canonical Allele Identifier: CA321964

Gene: PDHA1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355452C>A , CM000685.2:g.19355452C>A	GRCh38
NC_000023.10:g.19373570C>A , CM000685.1:g.19373570C>A	GRCh37
NC_000023.9:g.19283491C>A	NCBI36
NG_016781.1:g.16560C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.728C>A	ENSP00000348062.6:p.Ala243Glu
ENST00000379805.4:c.*399C>A	ENSP00000369133.3:n.*399C>A
ENST00000417819.6:c.791C>A	ENSP00000404616.2:p.Ala264Glu
ENST00000423505.6:c.821C>A	ENSP00000406473.2:p.Ala274Glu
ENST00000481733.2:n.502C>A
ENST00000696704.1:c.*39C>A	ENSP00000512823.1:n.*39C>A
ENST00000696705.1:c.*162C>A	ENSP00000512824.1:n.*162C>A
ENST00000422285.7:c.707C>A MANE Select	ENSP00000394382.2:p.Ala236Glu
ENST00000379806.9:c.821C>A	ENSP00000369134.5:p.Ala274Glu
ENST00000422285.6:c.707C>A	ENSP00000394382.2:p.Ala236Glu
ENST00000481733.1:n.135C>A
ENST00000540249.5:c.614C>A	ENSP00000440761.1:p.Ala205Glu
ENST00000545074.5:c.728C>A	ENSP00000438550.1:p.Ala243Glu
NM_000284.3:c.707C>A	NP_000275.1:p.Ala236Glu
NM_001173454.1:c.821C>A	NP_001166925.1:p.Ala274Glu
NM_001173455.1:c.728C>A	NP_001166926.1:p.Ala243Glu
NM_001173456.1:c.614C>A	NP_001166927.1:p.Ala205Glu
XM_011545531.1:c.842C>A	XP_011543833.1:p.Ala281Glu
XM_011545532.1:c.749C>A	XP_011543834.1:p.Ala250Glu
XM_017029574.2:c.728C>A	XP_016885063.1:p.Ala243Glu
NM_000284.4:c.707C>A MANE Select	NP_000275.1:p.Ala236Glu
NM_001173454.2:c.821C>A	NP_001166925.1:p.Ala274Glu
NM_001173455.2:c.728C>A	NP_001166926.1:p.Ala243Glu
NM_001173456.2:c.614C>A	NP_001166927.1:p.Ala205Glu