Canonical Allele Identifier: CA16043723
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374330
ClinVar RCV Id: RCV000415131
dbSNP Id: rs1057518702
gnomAD v3: X-19351258-A-G
gnomAD v4: X-19351258-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19351258A>G , CM000685.2:g.19351258A>G GRCh38
NC_000023.10:g.19369376A>G , CM000685.1:g.19369376A>G GRCh37
NC_000023.9:g.19279297A>G NCBI36
NG_016781.1:g.12366A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.292-2A>G ENSP00000348062.6:n.292-2A>G
ENST00000379805.4:c.292-23A>G ENSP00000369133.3:n.292-23A>G
ENST00000417819.6:c.376-23A>G ENSP00000404616.2:n.376-23A>G
ENST00000423505.6:c.406-23A>G ENSP00000406473.2:n.406-23A>G
ENST00000696704.1:c.292-23A>G ENSP00000512823.1:n.292-23A>G
ENST00000696705.1:c.292-23A>G ENSP00000512824.1:n.292-23A>G
ENST00000422285.7:c.292-23A>G MANE Select ENSP00000394382.2:n.292-23A>G
ENST00000355808.9:c.292-2A>G ENSP00000348062.5:n.292-2A>G
ENST00000379805.3:c.292-23A>G ENSP00000369133.3:n.292-23A>G
ENST00000379806.9:c.406-23A>G ENSP00000369134.5:n.406-23A>G
ENST00000422285.6:c.292-23A>G ENSP00000394382.2:n.292-23A>G
ENST00000423505.5:c.406-23A>G ENSP00000406473.1:n.406-23A>G
ENST00000492364.1:n.394-23A>G
ENST00000540249.5:c.292-23A>G ENSP00000440761.1:n.292-23A>G
ENST00000545074.5:c.292-2A>G ENSP00000438550.1:n.292-2A>G
NM_000284.3:c.292-23A>G NP_000275.1:n.292-23A>G
NM_001173454.1:c.406-23A>G NP_001166925.1:n.406-23A>G
NM_001173455.1:c.292-2A>G NP_001166926.1:n.292-2A>G
NM_001173456.1:c.292-23A>G NP_001166927.1:n.292-23A>G
XM_011545531.1:c.406-2A>G XP_011543833.1:n.406-2A>G
XM_011545532.1:c.406-2A>G XP_011543834.1:n.406-2A>G
XM_017029574.2:c.406-23A>G XP_016885063.1:n.406-23A>G
NM_000284.4:c.292-23A>G MANE Select NP_000275.1:n.292-23A>G
NM_001173454.2:c.406-23A>G NP_001166925.1:n.406-23A>G
NM_001173455.2:c.292-2A>G NP_001166926.1:n.292-2A>G
NM_001173456.2:c.292-23A>G NP_001166927.1:n.292-23A>G