Canonical Allele Identifier: CA2580100438

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1907526
• ClinVar RCV Id: RCV002596412
• gnomAD v4: X-19355673-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355673T>C , CM000685.2:g.19355673T>C	GRCh38
NC_000023.10:g.19373791T>C , CM000685.1:g.19373791T>C	GRCh37
NC_000023.9:g.19283712T>C	NCBI36
NG_016781.1:g.16781T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.781-13T>C	ENSP00000348062.6:n.781-13T>C
ENST00000379805.4:c.*452-13T>C	ENSP00000369133.3:n.*452-13T>C
ENST00000417819.6:c.844-13T>C	ENSP00000404616.2:n.844-13T>C
ENST00000423505.6:c.874-13T>C	ENSP00000406473.2:n.874-13T>C
ENST00000481733.2:n.555-13T>C
ENST00000696704.1:c.*92-13T>C	ENSP00000512823.1:n.*92-13T>C
ENST00000696705.1:c.*215-13T>C	ENSP00000512824.1:n.*215-13T>C
ENST00000422285.7:c.760-13T>C MANE Select	ENSP00000394382.2:n.760-13T>C
ENST00000379804.1:c.-97T>C	ENSP00000369132.1:n.-97T>C
ENST00000379806.9:c.874-13T>C	ENSP00000369134.5:n.874-13T>C
ENST00000422285.6:c.760-13T>C	ENSP00000394382.2:n.760-13T>C
ENST00000481733.1:n.188-13T>C
ENST00000540249.5:c.667-13T>C	ENSP00000440761.1:n.667-13T>C
ENST00000545074.5:c.781-13T>C	ENSP00000438550.1:n.781-13T>C
NM_000284.3:c.760-13T>C	NP_000275.1:n.760-13T>C
NM_001173454.1:c.874-13T>C	NP_001166925.1:n.874-13T>C
NM_001173455.1:c.781-13T>C	NP_001166926.1:n.781-13T>C
NM_001173456.1:c.667-13T>C	NP_001166927.1:n.667-13T>C
XM_011545531.1:c.895-13T>C	XP_011543833.1:n.895-13T>C
XM_011545532.1:c.802-13T>C	XP_011543834.1:n.802-13T>C
XM_017029574.2:c.781-13T>C	XP_016885063.1:n.781-13T>C
NM_000284.4:c.760-13T>C MANE Select	NP_000275.1:n.760-13T>C
NM_001173454.2:c.874-13T>C	NP_001166925.1:n.874-13T>C
NM_001173455.2:c.781-13T>C	NP_001166926.1:n.781-13T>C
NM_001173456.2:c.667-13T>C	NP_001166927.1:n.667-13T>C