Canonical Allele Identifier: CA2693250807

Gene: PDHA1

Linked Data

• gnomAD v4: X-19357427-T-TGGCAGATTGCCTTATTAAAAATGAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357428_19357454dup , CM000685.2:g.19357428_19357454dup	GRCh38
NC_000023.10:g.19375546_19375572dup , CM000685.1:g.19375546_19375572dup	GRCh37
NC_000023.9:g.19285467_19285493dup	NCBI36
NG_016781.1:g.18536_18562dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-224_853-198dup	ENSP00000348062.6:n.853-224_853-198dup
ENST00000379805.4:c.*524-224_*524-198dup	ENSP00000369133.3:n.*524-224_*524-198dup
ENST00000417819.6:c.916-224_916-198dup	ENSP00000404616.2:n.916-224_916-198dup
ENST00000423505.6:c.946-224_946-198dup	ENSP00000406473.2:n.946-224_946-198dup
ENST00000481733.2:n.627-224_627-198dup
ENST00000696704.1:c.*164-224_*164-198dup	ENSP00000512823.1:n.*164-224_*164-198dup
ENST00000696705.1:c.*287-224_*287-198dup	ENSP00000512824.1:n.*287-224_*287-198dup
ENST00000422285.7:c.832-224_832-198dup MANE Select	ENSP00000394382.2:n.832-224_832-198dup
ENST00000379804.1:c.-12-224_-12-198dup	ENSP00000369132.1:n.-12-224_-12-198dup
ENST00000379806.9:c.946-224_946-198dup	ENSP00000369134.5:n.946-224_946-198dup
ENST00000422285.6:c.832-224_832-198dup	ENSP00000394382.2:n.832-224_832-198dup
ENST00000478795.1:n.47_73dup
ENST00000481733.1:n.260-224_260-198dup
ENST00000540249.5:c.739-224_739-198dup	ENSP00000440761.1:n.739-224_739-198dup
ENST00000545074.5:c.853-224_853-198dup	ENSP00000438550.1:n.853-224_853-198dup
NM_000284.3:c.832-224_832-198dup	NP_000275.1:n.832-224_832-198dup
NM_001173454.1:c.946-224_946-198dup	NP_001166925.1:n.946-224_946-198dup
NM_001173455.1:c.853-224_853-198dup	NP_001166926.1:n.853-224_853-198dup
NM_001173456.1:c.739-224_739-198dup	NP_001166927.1:n.739-224_739-198dup
XM_011545531.1:c.967-224_967-198dup	XP_011543833.1:n.967-224_967-198dup
XM_011545532.1:c.874-224_874-198dup	XP_011543834.1:n.874-224_874-198dup
XM_017029574.2:c.853-224_853-198dup	XP_016885063.1:n.853-224_853-198dup
NM_000284.4:c.832-224_832-198dup MANE Select	NP_000275.1:n.832-224_832-198dup
NM_001173454.2:c.946-224_946-198dup	NP_001166925.1:n.946-224_946-198dup
NM_001173455.2:c.853-224_853-198dup	NP_001166926.1:n.853-224_853-198dup
NM_001173456.2:c.739-224_739-198dup	NP_001166927.1:n.739-224_739-198dup