Canonical Allele Identifier: CA412397195

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2783468
• ClinVar RCV Id: RCV003621817
• dbSNP Id: rs2063247855
• gnomAD v3: X-19359624-C-A
• gnomAD v4: X-19359624-C-A
• MyVariant Identifiers: chrX:g.19377742C>A (hg19) ; chrX:g.19359624C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359624C>A , CM000685.2:g.19359624C>A	GRCh38
NC_000023.10:g.19377742C>A , CM000685.1:g.19377742C>A	GRCh37
NC_000023.9:g.19287663C>A	NCBI36
NG_016781.1:g.20732C>A
NG_021184.1:g.160638G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1165C>A	ENSP00000348062.6:p.Gln389Lys
ENST00000379805.4:c.*836C>A	ENSP00000369133.3:n.*836C>A
ENST00000417819.6:c.1228C>A	ENSP00000404616.2:p.Gln410Lys
ENST00000423505.6:c.1258C>A	ENSP00000406473.2:p.Gln420Lys
ENST00000481733.2:n.939C>A
ENST00000696704.1:c.*476C>A	ENSP00000512823.1:n.*476C>A
ENST00000696705.1:c.*599C>A	ENSP00000512824.1:n.*599C>A
ENST00000422285.7:c.1144C>A MANE Select	ENSP00000394382.2:p.Gln382Lys
ENST00000379804.1:c.301C>A	ENSP00000369132.1:p.Gln101Lys
ENST00000379806.9:c.1258C>A	ENSP00000369134.5:p.Gln420Lys
ENST00000422285.6:c.1144C>A	ENSP00000394382.2:p.Gln382Lys
ENST00000478795.1:n.583C>A
ENST00000540249.5:c.1051C>A	ENSP00000440761.1:p.Gln351Lys
ENST00000545074.5:c.1165C>A	ENSP00000438550.1:p.Gln389Lys
NM_000284.3:c.1144C>A	NP_000275.1:p.Gln382Lys
NM_001173454.1:c.1258C>A	NP_001166925.1:p.Gln420Lys
NM_001173455.1:c.1165C>A	NP_001166926.1:p.Gln389Lys
NM_001173456.1:c.1051C>A	NP_001166927.1:p.Gln351Lys
XM_011545531.1:c.1279C>A	XP_011543833.1:p.Gln427Lys
XM_011545532.1:c.1186C>A	XP_011543834.1:p.Gln396Lys
XM_017029574.2:c.1165C>A	XP_016885063.1:p.Gln389Lys
NM_000284.4:c.1144C>A MANE Select	NP_000275.1:p.Gln382Lys
NM_001173454.2:c.1258C>A	NP_001166925.1:p.Gln420Lys
NM_001173455.2:c.1165C>A	NP_001166926.1:p.Gln389Lys
NM_001173456.2:c.1051C>A	NP_001166927.1:p.Gln351Lys