Canonical Allele Identifier: CA10363023

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 665997
• ClinVar RCV Id: RCV000824394 ; RCV001271287
• dbSNP Id: rs764996618
• ExAC: X:19369426 G / A
• gnomAD v2: X-19369426-G-A
• gnomAD v3: X-19351308-G-A
• gnomAD v4: X-19351308-G-A
• MyVariant Identifiers: chrX:g.19369426G>A (hg19) ; chrX:g.19351308G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19351308G>A , CM000685.2:g.19351308G>A	GRCh38
NC_000023.10:g.19369426G>A , CM000685.1:g.19369426G>A	GRCh37
NC_000023.9:g.19279347G>A	NCBI36
NG_016781.1:g.12416G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.340G>A	ENSP00000348062.6:p.Gly114Ser
ENST00000379805.4:c.319G>A	ENSP00000369133.3:p.Gly107Ser
ENST00000417819.6:c.403G>A	ENSP00000404616.2:p.Gly135Ser
ENST00000423505.6:c.433G>A	ENSP00000406473.2:p.Gly145Ser
ENST00000696704.1:c.319G>A	ENSP00000512823.1:p.Gly107Ser
ENST00000696705.1:c.319G>A	ENSP00000512824.1:p.Gly107Ser
ENST00000422285.7:c.319G>A MANE Select	ENSP00000394382.2:p.Gly107Ser
ENST00000355808.9:c.340G>A	ENSP00000348062.5:p.Gly114Ser
ENST00000379805.3:c.319G>A	ENSP00000369133.3:p.Gly107Ser
ENST00000379806.9:c.433G>A	ENSP00000369134.5:p.Gly145Ser
ENST00000422285.6:c.319G>A	ENSP00000394382.2:p.Gly107Ser
ENST00000423505.5:c.433G>A	ENSP00000406473.1:p.Gly145Ser
ENST00000492364.1:n.421G>A
ENST00000540249.5:c.319G>A	ENSP00000440761.1:p.Gly107Ser
ENST00000545074.5:c.340G>A	ENSP00000438550.1:p.Gly114Ser
NM_000284.3:c.319G>A	NP_000275.1:p.Gly107Ser
NM_001173454.1:c.433G>A	NP_001166925.1:p.Gly145Ser
NM_001173455.1:c.340G>A	NP_001166926.1:p.Gly114Ser
NM_001173456.1:c.319G>A	NP_001166927.1:p.Gly107Ser
XM_011545531.1:c.454G>A	XP_011543833.1:p.Gly152Ser
XM_011545532.1:c.454G>A	XP_011543834.1:p.Gly152Ser
XM_017029574.2:c.433G>A	XP_016885063.1:p.Gly145Ser
NM_000284.4:c.319G>A MANE Select	NP_000275.1:p.Gly107Ser
NM_001173454.2:c.433G>A	NP_001166925.1:p.Gly145Ser
NM_001173455.2:c.340G>A	NP_001166926.1:p.Gly114Ser
NM_001173456.2:c.319G>A	NP_001166927.1:p.Gly107Ser