Canonical Allele Identifier: CA515485527
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1139832
ClinVar RCV Id: RCV001476670
dbSNP Id: rs1198119577
gnomAD v2: X-19369440-A-G
gnomAD v4: X-19351322-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19351322A>G , CM000685.2:g.19351322A>G GRCh38
NC_000023.10:g.19369440A>G , CM000685.1:g.19369440A>G GRCh37
NC_000023.9:g.19279361A>G NCBI36
NG_016781.1:g.12430A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.354A>G ENSP00000348062.6:p.Thr118=
ENST00000379805.4:c.333A>G ENSP00000369133.3:p.Thr111=
ENST00000417819.6:c.417A>G ENSP00000404616.2:p.Thr139=
ENST00000423505.6:c.447A>G ENSP00000406473.2:p.Thr149=
ENST00000696704.1:c.333A>G ENSP00000512823.1:p.Thr111=
ENST00000696705.1:c.333A>G ENSP00000512824.1:p.Thr111=
ENST00000422285.7:c.333A>G MANE Select ENSP00000394382.2:p.Thr111=
ENST00000355808.9:c.354A>G ENSP00000348062.5:p.Thr118=
ENST00000379805.3:c.333A>G ENSP00000369133.3:p.Thr111=
ENST00000379806.9:c.447A>G ENSP00000369134.5:p.Thr149=
ENST00000422285.6:c.333A>G ENSP00000394382.2:p.Thr111=
ENST00000423505.5:c.447A>G ENSP00000406473.1:p.Thr149=
ENST00000492364.1:n.435A>G
ENST00000540249.5:c.333A>G ENSP00000440761.1:p.Thr111=
ENST00000545074.5:c.354A>G ENSP00000438550.1:p.Thr118=
NM_000284.3:c.333A>G NP_000275.1:p.Thr111=
NM_001173454.1:c.447A>G NP_001166925.1:p.Thr149=
NM_001173455.1:c.354A>G NP_001166926.1:p.Thr118=
NM_001173456.1:c.333A>G NP_001166927.1:p.Thr111=
XM_011545531.1:c.468A>G XP_011543833.1:p.Thr156=
XM_011545532.1:c.468A>G XP_011543834.1:p.Thr156=
XM_017029574.2:c.447A>G XP_016885063.1:p.Thr149=
NM_000284.4:c.333A>G MANE Select NP_000275.1:p.Thr111=
NM_001173454.2:c.447A>G NP_001166925.1:p.Thr149=
NM_001173455.2:c.354A>G NP_001166926.1:p.Thr118=
NM_001173456.2:c.333A>G NP_001166927.1:p.Thr111=