Canonical Allele Identifier: CA412394476

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 991384
• ClinVar RCV Id: RCV001279593 ; RCV002473254
• dbSNP Id: rs1410654779
• gnomAD v2: X-19373524-A-G
• gnomAD v4: X-19355406-A-G
• MyVariant Identifiers: chrX:g.19373524A>G (hg19) ; chrX:g.19355406A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355406A>G , CM000685.2:g.19355406A>G	GRCh38
NC_000023.10:g.19373524A>G , CM000685.1:g.19373524A>G	GRCh37
NC_000023.9:g.19283445A>G	NCBI36
NG_016781.1:g.16514A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.682A>G	ENSP00000348062.6:p.Ile228Val
ENST00000379805.4:c.*353A>G	ENSP00000369133.3:n.*353A>G
ENST00000417819.6:c.745A>G	ENSP00000404616.2:p.Ile249Val
ENST00000423505.6:c.775A>G	ENSP00000406473.2:p.Ile259Val
ENST00000481733.2:n.456A>G
ENST00000696704.1:c.476A>G	ENSP00000512823.1:p.His159Arg
ENST00000696705.1:c.*116A>G	ENSP00000512824.1:n.*116A>G
ENST00000422285.7:c.661A>G MANE Select	ENSP00000394382.2:p.Ile221Val
ENST00000379806.9:c.775A>G	ENSP00000369134.5:p.Ile259Val
ENST00000422285.6:c.661A>G	ENSP00000394382.2:p.Ile221Val
ENST00000479146.1:n.496A>G
ENST00000481733.1:n.89A>G
ENST00000540249.5:c.568A>G	ENSP00000440761.1:p.Ile190Val
ENST00000545074.5:c.682A>G	ENSP00000438550.1:p.Ile228Val
NM_000284.3:c.661A>G	NP_000275.1:p.Ile221Val
NM_001173454.1:c.775A>G	NP_001166925.1:p.Ile259Val
NM_001173455.1:c.682A>G	NP_001166926.1:p.Ile228Val
NM_001173456.1:c.568A>G	NP_001166927.1:p.Ile190Val
XM_011545531.1:c.796A>G	XP_011543833.1:p.Ile266Val
XM_011545532.1:c.703A>G	XP_011543834.1:p.Ile235Val
XM_017029574.2:c.682A>G	XP_016885063.1:p.Ile228Val
NM_000284.4:c.661A>G MANE Select	NP_000275.1:p.Ile221Val
NM_001173454.2:c.775A>G	NP_001166925.1:p.Ile259Val
NM_001173455.2:c.682A>G	NP_001166926.1:p.Ile228Val
NM_001173456.2:c.568A>G	NP_001166927.1:p.Ile190Val