Canonical Allele Identifier: CA10363001

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1569557
• ClinVar RCV Id: RCV002220768
• dbSNP Id: rs745312079
• ExAC: X:19368076 G / A
• gnomAD v2: X-19368076-G-A
• gnomAD v3: X-19349958-G-A
• gnomAD v4: X-19349958-G-A
• MyVariant Identifiers: chrX:g.19368076G>A (hg19) ; chrX:g.19349958G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19349958G>A , CM000685.2:g.19349958G>A	GRCh38
NC_000023.10:g.19368076G>A , CM000685.1:g.19368076G>A	GRCh37
NC_000023.9:g.19277997G>A	NCBI36
NG_016781.1:g.11066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.139G>A	ENSP00000348062.6:p.Glu47Lys
ENST00000379805.4:c.139G>A	ENSP00000369133.3:p.Glu47Lys
ENST00000417819.6:c.223G>A	ENSP00000404616.2:p.Glu75Lys
ENST00000423505.6:c.253G>A	ENSP00000406473.2:p.Glu85Lys
ENST00000696704.1:c.139G>A	ENSP00000512823.1:p.Glu47Lys
ENST00000696705.1:c.139G>A	ENSP00000512824.1:p.Glu47Lys
ENST00000422285.7:c.139G>A MANE Select	ENSP00000394382.2:p.Glu47Lys
ENST00000355808.9:c.139G>A	ENSP00000348062.5:p.Glu47Lys
ENST00000379805.3:c.139G>A	ENSP00000369133.3:p.Glu47Lys
ENST00000379806.9:c.253G>A	ENSP00000369134.5:p.Glu85Lys
ENST00000417819.5:c.223G>A	ENSP00000404616.1:p.Glu75Lys
ENST00000422285.6:c.139G>A	ENSP00000394382.2:p.Glu47Lys
ENST00000423505.5:c.253G>A	ENSP00000406473.1:p.Glu85Lys
ENST00000492364.1:n.241G>A
ENST00000540249.5:c.139G>A	ENSP00000440761.1:p.Glu47Lys
ENST00000545074.5:c.139G>A	ENSP00000438550.1:p.Glu47Lys
NM_000284.3:c.139G>A	NP_000275.1:p.Glu47Lys
NM_001173454.1:c.253G>A	NP_001166925.1:p.Glu85Lys
NM_001173455.1:c.139G>A	NP_001166926.1:p.Glu47Lys
NM_001173456.1:c.139G>A	NP_001166927.1:p.Glu47Lys
XM_011545531.1:c.253G>A	XP_011543833.1:p.Glu85Lys
XM_011545532.1:c.253G>A	XP_011543834.1:p.Glu85Lys
XM_017029574.2:c.253G>A	XP_016885063.1:p.Glu85Lys
NM_000284.4:c.139G>A MANE Select	NP_000275.1:p.Glu47Lys
NM_001173454.2:c.253G>A	NP_001166925.1:p.Glu85Lys
NM_001173455.2:c.139G>A	NP_001166926.1:p.Glu47Lys
NM_001173456.2:c.139G>A	NP_001166927.1:p.Glu47Lys