Canonical Allele Identifier: CA412394553

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1804669
• ClinVar RCV Id: RCV002469966 ; RCV003621670
• dbSNP Id: rs1272572107
• gnomAD v3: X-19355437-C-T
• gnomAD v4: X-19355437-C-T
• COSMIC: COSM3560261 ; COSM3560262 ; COSM3560263
• MyVariant Identifiers: chrX:g.19373555C>T (hg19) ; chrX:g.19355437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355437C>T , CM000685.2:g.19355437C>T	GRCh38
NC_000023.10:g.19373555C>T , CM000685.1:g.19373555C>T	GRCh37
NC_000023.9:g.19283476C>T	NCBI36
NG_016781.1:g.16545C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.713C>T	ENSP00000348062.6:p.Thr238Met
ENST00000379805.4:c.*384C>T	ENSP00000369133.3:n.*384C>T
ENST00000417819.6:c.776C>T	ENSP00000404616.2:p.Thr259Met
ENST00000423505.6:c.806C>T	ENSP00000406473.2:p.Thr269Met
ENST00000481733.2:n.487C>T
ENST00000696704.1:c.*24C>T	ENSP00000512823.1:n.*24C>T
ENST00000696705.1:c.*147C>T	ENSP00000512824.1:n.*147C>T
ENST00000422285.7:c.692C>T MANE Select	ENSP00000394382.2:p.Thr231Met
ENST00000379806.9:c.806C>T	ENSP00000369134.5:p.Thr269Met
ENST00000422285.6:c.692C>T	ENSP00000394382.2:p.Thr231Met
ENST00000479146.1:n.527C>T
ENST00000481733.1:n.120C>T
ENST00000540249.5:c.599C>T	ENSP00000440761.1:p.Thr200Met
ENST00000545074.5:c.713C>T	ENSP00000438550.1:p.Thr238Met
NM_000284.3:c.692C>T	NP_000275.1:p.Thr231Met
NM_001173454.1:c.806C>T	NP_001166925.1:p.Thr269Met
NM_001173455.1:c.713C>T	NP_001166926.1:p.Thr238Met
NM_001173456.1:c.599C>T	NP_001166927.1:p.Thr200Met
XM_011545531.1:c.827C>T	XP_011543833.1:p.Thr276Met
XM_011545532.1:c.734C>T	XP_011543834.1:p.Thr245Met
XM_017029574.2:c.713C>T	XP_016885063.1:p.Thr238Met
NM_000284.4:c.692C>T MANE Select	NP_000275.1:p.Thr231Met
NM_001173454.2:c.806C>T	NP_001166925.1:p.Thr269Met
NM_001173455.2:c.713C>T	NP_001166926.1:p.Thr238Met
NM_001173456.2:c.599C>T	NP_001166927.1:p.Thr200Met