Canonical Allele Identifier: CA2418225022

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063223968

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358602_19358605dup , CM000685.2:g.19358602_19358605dup	GRCh38
NC_000023.10:g.19376720_19376723dup , CM000685.1:g.19376720_19376723dup	GRCh37
NC_000023.9:g.19286641_19286644dup	NCBI36
NG_016781.1:g.19710_19713dup
NG_021184.1:g.161658_161661dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.921-314_921-311dup	ENSP00000348062.6:n.921-314_921-311dup
ENST00000379805.4:c.*592-314_*592-311dup	ENSP00000369133.3:n.*592-314_*592-311dup
ENST00000417819.6:c.984-314_984-311dup	ENSP00000404616.2:n.984-314_984-311dup
ENST00000423505.6:c.1014-314_1014-311dup	ENSP00000406473.2:n.1014-314_1014-311dup
ENST00000481733.2:n.695-314_695-311dup
ENST00000696704.1:c.*232-314_*232-311dup	ENSP00000512823.1:n.*232-314_*232-311dup
ENST00000696705.1:c.*355-314_*355-311dup	ENSP00000512824.1:n.*355-314_*355-311dup
ENST00000422285.7:c.900-314_900-311dup MANE Select	ENSP00000394382.2:n.900-314_900-311dup
ENST00000379804.1:c.57-314_57-311dup	ENSP00000369132.1:n.57-314_57-311dup
ENST00000379806.9:c.1014-314_1014-311dup	ENSP00000369134.5:n.1014-314_1014-311dup
ENST00000422285.6:c.900-314_900-311dup	ENSP00000394382.2:n.900-314_900-311dup
ENST00000478795.1:n.339-314_339-311dup
ENST00000481733.1:n.328-314_328-311dup
ENST00000540249.5:c.807-314_807-311dup	ENSP00000440761.1:n.807-314_807-311dup
ENST00000545074.5:c.921-314_921-311dup	ENSP00000438550.1:n.921-314_921-311dup
NM_000284.3:c.900-314_900-311dup	NP_000275.1:n.900-314_900-311dup
NM_001173454.1:c.1014-314_1014-311dup	NP_001166925.1:n.1014-314_1014-311dup
NM_001173455.1:c.921-314_921-311dup	NP_001166926.1:n.921-314_921-311dup
NM_001173456.1:c.807-314_807-311dup	NP_001166927.1:n.807-314_807-311dup
XM_011545531.1:c.1035-314_1035-311dup	XP_011543833.1:n.1035-314_1035-311dup
XM_011545532.1:c.942-314_942-311dup	XP_011543834.1:n.942-314_942-311dup
XM_017029574.2:c.921-314_921-311dup	XP_016885063.1:n.921-314_921-311dup
NM_000284.4:c.900-314_900-311dup MANE Select	NP_000275.1:n.900-314_900-311dup
NM_001173454.2:c.1014-314_1014-311dup	NP_001166925.1:n.1014-314_1014-311dup
NM_001173455.2:c.921-314_921-311dup	NP_001166926.1:n.921-314_921-311dup
NM_001173456.2:c.807-314_807-311dup	NP_001166927.1:n.807-314_807-311dup