Canonical Allele Identifier: CA2418224512

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063210854

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357472_19357475dup , CM000685.2:g.19357472_19357475dup	GRCh38
NC_000023.10:g.19375590_19375593dup , CM000685.1:g.19375590_19375593dup	GRCh37
NC_000023.9:g.19285511_19285514dup	NCBI36
NG_016781.1:g.18580_18583dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-180_853-177dup	ENSP00000348062.6:n.853-180_853-177dup
ENST00000379805.4:c.*524-180_*524-177dup	ENSP00000369133.3:n.*524-180_*524-177dup
ENST00000417819.6:c.916-180_916-177dup	ENSP00000404616.2:n.916-180_916-177dup
ENST00000423505.6:c.946-180_946-177dup	ENSP00000406473.2:n.946-180_946-177dup
ENST00000481733.2:n.627-180_627-177dup
ENST00000696704.1:c.*164-180_*164-177dup	ENSP00000512823.1:n.*164-180_*164-177dup
ENST00000696705.1:c.*287-180_*287-177dup	ENSP00000512824.1:n.*287-180_*287-177dup
ENST00000422285.7:c.832-180_832-177dup MANE Select	ENSP00000394382.2:n.832-180_832-177dup
ENST00000379804.1:c.-12-180_-12-177dup	ENSP00000369132.1:n.-12-180_-12-177dup
ENST00000379806.9:c.946-180_946-177dup	ENSP00000369134.5:n.946-180_946-177dup
ENST00000422285.6:c.832-180_832-177dup	ENSP00000394382.2:n.832-180_832-177dup
ENST00000478795.1:n.91_94dup
ENST00000481733.1:n.260-180_260-177dup
ENST00000540249.5:c.739-180_739-177dup	ENSP00000440761.1:n.739-180_739-177dup
ENST00000545074.5:c.853-180_853-177dup	ENSP00000438550.1:n.853-180_853-177dup
NM_000284.3:c.832-180_832-177dup	NP_000275.1:n.832-180_832-177dup
NM_001173454.1:c.946-180_946-177dup	NP_001166925.1:n.946-180_946-177dup
NM_001173455.1:c.853-180_853-177dup	NP_001166926.1:n.853-180_853-177dup
NM_001173456.1:c.739-180_739-177dup	NP_001166927.1:n.739-180_739-177dup
XM_011545531.1:c.967-180_967-177dup	XP_011543833.1:n.967-180_967-177dup
XM_011545532.1:c.874-180_874-177dup	XP_011543834.1:n.874-180_874-177dup
XM_017029574.2:c.853-180_853-177dup	XP_016885063.1:n.853-180_853-177dup
NM_000284.4:c.832-180_832-177dup MANE Select	NP_000275.1:n.832-180_832-177dup
NM_001173454.2:c.946-180_946-177dup	NP_001166925.1:n.946-180_946-177dup
NM_001173455.2:c.853-180_853-177dup	NP_001166926.1:n.853-180_853-177dup
NM_001173456.2:c.739-180_739-177dup	NP_001166927.1:n.739-180_739-177dup