Canonical Allele Identifier: CA323094
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214936
ClinVar RCV Id: RCV000198575 RCV000497402 RCV001788065 RCV001796726
dbSNP Id: rs863224147
COSMIC: COSM612343 COSM1651066 COSM3913734
MyVariant Identifiers: chrX:g.19377730C>T (hg19) chrX:g.19359612C>T (hg38)
ERepo: CA323094/MONDO:0019169/014
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359612C>T , CM000685.2:g.19359612C>T GRCh38
NC_000023.10:g.19377730C>T , CM000685.1:g.19377730C>T GRCh37
NC_000023.9:g.19287651C>T NCBI36
NG_016781.1:g.20720C>T
NG_021184.1:g.160650G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.1153C>T ENSP00000348062.6:p.Arg385Cys
ENST00000379805.4:c.*824C>T ENSP00000369133.3:n.*824C>T
ENST00000417819.6:c.1216C>T ENSP00000404616.2:p.Arg406Cys
ENST00000423505.6:c.1246C>T ENSP00000406473.2:p.Arg416Cys
ENST00000481733.2:n.927C>T
ENST00000696704.1:c.*464C>T ENSP00000512823.1:n.*464C>T
ENST00000696705.1:c.*587C>T ENSP00000512824.1:n.*587C>T
ENST00000422285.7:c.1132C>T MANE Select ENSP00000394382.2:p.Arg378Cys
ENST00000379804.1:c.289C>T ENSP00000369132.1:p.Arg97Cys
ENST00000379806.9:c.1246C>T ENSP00000369134.5:p.Arg416Cys
ENST00000422285.6:c.1132C>T ENSP00000394382.2:p.Arg378Cys
ENST00000478795.1:n.571C>T
ENST00000540249.5:c.1039C>T ENSP00000440761.1:p.Arg347Cys
ENST00000545074.5:c.1153C>T ENSP00000438550.1:p.Arg385Cys
NM_000284.3:c.1132C>T NP_000275.1:p.Arg378Cys
NM_001173454.1:c.1246C>T NP_001166925.1:p.Arg416Cys
NM_001173455.1:c.1153C>T NP_001166926.1:p.Arg385Cys
NM_001173456.1:c.1039C>T NP_001166927.1:p.Arg347Cys
XM_011545531.1:c.1267C>T XP_011543833.1:p.Arg423Cys
XM_011545532.1:c.1174C>T XP_011543834.1:p.Arg392Cys
XM_017029574.2:c.1153C>T XP_016885063.1:p.Arg385Cys
NM_000284.4:c.1132C>T MANE Select NP_000275.1:p.Arg378Cys
NM_001173454.2:c.1246C>T NP_001166925.1:p.Arg416Cys
NM_001173455.2:c.1153C>T NP_001166926.1:p.Arg385Cys
NM_001173456.2:c.1039C>T NP_001166927.1:p.Arg347Cys
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