Canonical Allele Identifier: CA2418224478

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063210248

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357398_19357411dup , CM000685.2:g.19357398_19357411dup	GRCh38
NC_000023.10:g.19375516_19375529dup , CM000685.1:g.19375516_19375529dup	GRCh37
NC_000023.9:g.19285437_19285450dup	NCBI36
NG_016781.1:g.18506_18519dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-254_853-241dup	ENSP00000348062.6:n.853-254_853-241dup
ENST00000379805.4:c.*524-254_*524-241dup	ENSP00000369133.3:n.*524-254_*524-241dup
ENST00000417819.6:c.916-254_916-241dup	ENSP00000404616.2:n.916-254_916-241dup
ENST00000423505.6:c.946-254_946-241dup	ENSP00000406473.2:n.946-254_946-241dup
ENST00000481733.2:n.627-254_627-241dup
ENST00000696704.1:c.*164-254_*164-241dup	ENSP00000512823.1:n.*164-254_*164-241dup
ENST00000696705.1:c.*287-254_*287-241dup	ENSP00000512824.1:n.*287-254_*287-241dup
ENST00000422285.7:c.832-254_832-241dup MANE Select	ENSP00000394382.2:n.832-254_832-241dup
ENST00000379804.1:c.-12-254_-12-241dup	ENSP00000369132.1:n.-12-254_-12-241dup
ENST00000379806.9:c.946-254_946-241dup	ENSP00000369134.5:n.946-254_946-241dup
ENST00000422285.6:c.832-254_832-241dup	ENSP00000394382.2:n.832-254_832-241dup
ENST00000478795.1:n.17_30dup
ENST00000481733.1:n.260-254_260-241dup
ENST00000540249.5:c.739-254_739-241dup	ENSP00000440761.1:n.739-254_739-241dup
ENST00000545074.5:c.853-254_853-241dup	ENSP00000438550.1:n.853-254_853-241dup
NM_000284.3:c.832-254_832-241dup	NP_000275.1:n.832-254_832-241dup
NM_001173454.1:c.946-254_946-241dup	NP_001166925.1:n.946-254_946-241dup
NM_001173455.1:c.853-254_853-241dup	NP_001166926.1:n.853-254_853-241dup
NM_001173456.1:c.739-254_739-241dup	NP_001166927.1:n.739-254_739-241dup
XM_011545531.1:c.967-254_967-241dup	XP_011543833.1:n.967-254_967-241dup
XM_011545532.1:c.874-254_874-241dup	XP_011543834.1:n.874-254_874-241dup
XM_017029574.2:c.853-254_853-241dup	XP_016885063.1:n.853-254_853-241dup
NM_000284.4:c.832-254_832-241dup MANE Select	NP_000275.1:n.832-254_832-241dup
NM_001173454.2:c.946-254_946-241dup	NP_001166925.1:n.946-254_946-241dup
NM_001173455.2:c.853-254_853-241dup	NP_001166926.1:n.853-254_853-241dup
NM_001173456.2:c.739-254_739-241dup	NP_001166927.1:n.739-254_739-241dup