Canonical Allele Identifier: CA2693250886

Gene: PDHA1

Linked Data

• gnomAD v4: X-19357575-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357575T>G , CM000685.2:g.19357575T>G	GRCh38
NC_000023.10:g.19375693T>G , CM000685.1:g.19375693T>G	GRCh37
NC_000023.9:g.19285614T>G	NCBI36
NG_016781.1:g.18683T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.853-77T>G	ENSP00000348062.6:n.853-77T>G
ENST00000379805.4:c.*524-77T>G	ENSP00000369133.3:n.*524-77T>G
ENST00000417819.6:c.916-77T>G	ENSP00000404616.2:n.916-77T>G
ENST00000423505.6:c.946-77T>G	ENSP00000406473.2:n.946-77T>G
ENST00000481733.2:n.627-77T>G
ENST00000696704.1:c.*164-77T>G	ENSP00000512823.1:n.*164-77T>G
ENST00000696705.1:c.*287-77T>G	ENSP00000512824.1:n.*287-77T>G
ENST00000422285.7:c.832-77T>G MANE Select	ENSP00000394382.2:n.832-77T>G
ENST00000379804.1:c.-12-77T>G	ENSP00000369132.1:n.-12-77T>G
ENST00000379806.9:c.946-77T>G	ENSP00000369134.5:n.946-77T>G
ENST00000422285.6:c.832-77T>G	ENSP00000394382.2:n.832-77T>G
ENST00000478795.1:n.194T>G
ENST00000481733.1:n.260-77T>G
ENST00000540249.5:c.739-77T>G	ENSP00000440761.1:n.739-77T>G
ENST00000545074.5:c.853-77T>G	ENSP00000438550.1:n.853-77T>G
NM_000284.3:c.832-77T>G	NP_000275.1:n.832-77T>G
NM_001173454.1:c.946-77T>G	NP_001166925.1:n.946-77T>G
NM_001173455.1:c.853-77T>G	NP_001166926.1:n.853-77T>G
NM_001173456.1:c.739-77T>G	NP_001166927.1:n.739-77T>G
XM_011545531.1:c.967-77T>G	XP_011543833.1:n.967-77T>G
XM_011545532.1:c.874-77T>G	XP_011543834.1:n.874-77T>G
XM_017029574.2:c.853-77T>G	XP_016885063.1:n.853-77T>G
NM_000284.4:c.832-77T>G MANE Select	NP_000275.1:n.832-77T>G
NM_001173454.2:c.946-77T>G	NP_001166925.1:n.946-77T>G
NM_001173455.2:c.853-77T>G	NP_001166926.1:n.853-77T>G
NM_001173456.2:c.739-77T>G	NP_001166927.1:n.739-77T>G