Canonical Allele Identifier: CA915950757

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 640193
• ClinVar RCV Id: RCV000793164
• dbSNP Id: rs1602231539

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358950_19359008dup , CM000685.2:g.19358950_19359008dup	GRCh38
NC_000023.10:g.19377068_19377126dup , CM000685.1:g.19377068_19377126dup	GRCh37
NC_000023.9:g.19286989_19287047dup	NCBI36
NG_016781.1:g.20058_20116dup
NG_021184.1:g.161254_161312dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.955_1013dup	ENSP00000348062.6:p.Ser338ArgfsTer15
ENST00000379805.4:c.*626_*684dup	ENSP00000369133.3:n.*626_*684dup
ENST00000417819.6:c.1018_1076dup	ENSP00000404616.2:p.Ser359ArgfsTer15
ENST00000423505.6:c.1048_1106dup	ENSP00000406473.2:p.Ser369ArgfsTer15
ENST00000481733.2:n.729_787dup
ENST00000696704.1:c.*266_*324dup	ENSP00000512823.1:n.*266_*324dup
ENST00000696705.1:c.*389_*447dup	ENSP00000512824.1:n.*389_*447dup
ENST00000422285.7:c.934_992dup MANE Select	ENSP00000394382.2:p.Ser331ArgfsTer15
ENST00000379804.1:c.91_149dup	ENSP00000369132.1:p.Ser50ArgfsTer15
ENST00000379806.9:c.1048_1106dup	ENSP00000369134.5:p.Ser369ArgfsTer15
ENST00000422285.6:c.934_992dup	ENSP00000394382.2:p.Ser331ArgfsTer15
ENST00000478795.1:n.373_431dup
ENST00000481733.1:n.362_420dup
ENST00000540249.5:c.841_899dup	ENSP00000440761.1:p.Ser300ArgfsTer15
ENST00000545074.5:c.955_1013dup	ENSP00000438550.1:p.Ser338ArgfsTer15
NM_000284.3:c.934_992dup	NP_000275.1:p.Ser331ArgfsTer15
NM_001173454.1:c.1048_1106dup	NP_001166925.1:p.Ser369ArgfsTer15
NM_001173455.1:c.955_1013dup	NP_001166926.1:p.Ser338ArgfsTer15
NM_001173456.1:c.841_899dup	NP_001166927.1:p.Ser300ArgfsTer15
XM_011545531.1:c.1069_1127dup	XP_011543833.1:p.Ser376ArgfsTer15
XM_011545532.1:c.976_1034dup	XP_011543834.1:p.Ser345ArgfsTer15
XM_017029574.2:c.955_1013dup	XP_016885063.1:p.Ser338ArgfsTer15
NM_000284.4:c.934_992dup MANE Select	NP_000275.1:p.Ser331ArgfsTer15
NM_001173454.2:c.1048_1106dup	NP_001166925.1:p.Ser369ArgfsTer15
NM_001173455.2:c.955_1013dup	NP_001166926.1:p.Ser338ArgfsTer15
NM_001173456.2:c.841_899dup	NP_001166927.1:p.Ser300ArgfsTer15