Canonical Allele Identifier: CA320449
Gene: PDHA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 214945
ClinVar RCV Id: RCV000196049
dbSNP Id: rs863224154

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358953_19358956dup , CM000685.2:g.19358953_19358956dup GRCh38
NC_000023.10:g.19377071_19377074dup , CM000685.1:g.19377071_19377074dup GRCh37
NC_000023.9:g.19286992_19286995dup NCBI36
NG_016781.1:g.20061_20064dup
NG_021184.1:g.161306_161309dup

Transcript Alleles

HGVS Amino-acid change
NM_000284.3:c.937_940dup VV NP_000275.1:p.Ser314LysfsTer3
NM_001173454.1:c.1051_1054dup VV NP_001166925.1:p.Ser352LysfsTer3
NM_001173455.1:c.958_961dup VV NP_001166926.1:p.Ser321LysfsTer3
NM_001173456.1:c.844_847dup VV NP_001166927.1:p.Ser283LysfsTer3
XM_011545531.1:c.1072_1075dup XP_011543833.1:p.Ser359LysfsTer3
XM_011545532.1:c.979_982dup XP_011543834.1:p.Ser328LysfsTer3
XM_017029574.2:c.958_961dup XP_016885063.1:p.Ser321LysfsTer3
ENST00000379804.1:c.94_97dup ENSP00000369132.1:p.Ser33LysfsTer3
ENST00000379806.9:c.1051_1054dup ENSP00000369134.5:p.Ser352LysfsTer3
ENST00000422285.6:c.937_940dup ENSP00000394382.2:p.Ser314LysfsTer3
ENST00000478795.1:n.376_379dup
ENST00000481733.1:n.365_368dup
ENST00000540249.5:c.844_847dup ENSP00000440761.1:p.Ser283LysfsTer3
ENST00000545074.5:c.958_961dup ENSP00000438550.1:p.Ser321LysfsTer3