Canonical Allele Identifier: CA10603427
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280622
ClinVar RCV Id: RCV000350025
dbSNP Id: rs886041793

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358970dup , CM000685.2:g.19358970dup GRCh38
NC_000023.10:g.19377088dup , CM000685.1:g.19377088dup GRCh37
NC_000023.9:g.19287009dup NCBI36
NG_016781.1:g.20078dup
NG_021184.1:g.161292dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.975dup ENSP00000348062.6:p.Leu326AlafsTer21
ENST00000379805.4:c.*646dup ENSP00000369133.3:n.*646dup
ENST00000417819.6:c.1038dup ENSP00000404616.2:p.Leu347AlafsTer21
ENST00000423505.6:c.1068dup ENSP00000406473.2:p.Leu357AlafsTer21
ENST00000481733.2:n.749dup
ENST00000696704.1:c.*286dup ENSP00000512823.1:n.*286dup
ENST00000696705.1:c.*409dup ENSP00000512824.1:n.*409dup
ENST00000422285.7:c.954dup MANE Select ENSP00000394382.2:p.Leu319AlafsTer21
ENST00000379804.1:c.111dup ENSP00000369132.1:p.Leu38AlafsTer21
ENST00000379806.9:c.1068dup ENSP00000369134.5:p.Leu357AlafsTer21
ENST00000422285.6:c.954dup ENSP00000394382.2:p.Leu319AlafsTer21
ENST00000478795.1:n.393dup
ENST00000481733.1:n.382dup
ENST00000540249.5:c.861dup ENSP00000440761.1:p.Leu288AlafsTer21
ENST00000545074.5:c.975dup ENSP00000438550.1:p.Leu326AlafsTer21
NM_000284.3:c.954dup NP_000275.1:p.Leu319AlafsTer21
NM_001173454.1:c.1068dup NP_001166925.1:p.Leu357AlafsTer21
NM_001173455.1:c.975dup NP_001166926.1:p.Leu326AlafsTer21
NM_001173456.1:c.861dup NP_001166927.1:p.Leu288AlafsTer21
XM_011545531.1:c.1089dup XP_011543833.1:p.Leu364AlafsTer21
XM_011545532.1:c.996dup XP_011543834.1:p.Leu333AlafsTer21
XM_017029574.2:c.975dup XP_016885063.1:p.Leu326AlafsTer21
NM_000284.4:c.954dup MANE Select NP_000275.1:p.Leu319AlafsTer21
NM_001173454.2:c.1068dup NP_001166925.1:p.Leu357AlafsTer21
NM_001173455.2:c.975dup NP_001166926.1:p.Leu326AlafsTer21
NM_001173456.2:c.861dup NP_001166927.1:p.Leu288AlafsTer21