Canonical Allele Identifier: CA10363005

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1169935
• ClinVar RCV Id: RCV001521809
• dbSNP Id: rs761538559
• ExAC: X:19368154 C / A
• gnomAD v2: X-19368154-C-A
• gnomAD v3: X-19350036-C-A
• gnomAD v4: X-19350036-C-A
• MyVariant Identifiers: chrX:g.19368154C>A (hg19) ; chrX:g.19350036C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19350036C>A , CM000685.2:g.19350036C>A	GRCh38
NC_000023.10:g.19368154C>A , CM000685.1:g.19368154C>A	GRCh37
NC_000023.9:g.19278075C>A	NCBI36
NG_016781.1:g.11144C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.217C>A	ENSP00000348062.6:p.Arg73=
ENST00000379805.4:c.217C>A	ENSP00000369133.3:p.Arg73=
ENST00000417819.6:c.301C>A	ENSP00000404616.2:p.Arg101=
ENST00000423505.6:c.331C>A	ENSP00000406473.2:p.Arg111=
ENST00000696704.1:c.217C>A	ENSP00000512823.1:p.Arg73=
ENST00000696705.1:c.217C>A	ENSP00000512824.1:p.Arg73=
ENST00000422285.7:c.217C>A MANE Select	ENSP00000394382.2:p.Arg73=
ENST00000355808.9:c.217C>A	ENSP00000348062.5:p.Arg73=
ENST00000379805.3:c.217C>A	ENSP00000369133.3:p.Arg73=
ENST00000379806.9:c.331C>A	ENSP00000369134.5:p.Arg111=
ENST00000417819.5:c.301C>A	ENSP00000404616.1:p.Arg101=
ENST00000422285.6:c.217C>A	ENSP00000394382.2:p.Arg73=
ENST00000423505.5:c.331C>A	ENSP00000406473.1:p.Arg111=
ENST00000492364.1:n.319C>A
ENST00000540249.5:c.217C>A	ENSP00000440761.1:p.Arg73=
ENST00000545074.5:c.217C>A	ENSP00000438550.1:p.Arg73=
NM_000284.3:c.217C>A	NP_000275.1:p.Arg73=
NM_001173454.1:c.331C>A	NP_001166925.1:p.Arg111=
NM_001173455.1:c.217C>A	NP_001166926.1:p.Arg73=
NM_001173456.1:c.217C>A	NP_001166927.1:p.Arg73=
XM_011545531.1:c.331C>A	XP_011543833.1:p.Arg111=
XM_011545532.1:c.331C>A	XP_011543834.1:p.Arg111=
XM_017029574.2:c.331C>A	XP_016885063.1:p.Arg111=
NM_000284.4:c.217C>A MANE Select	NP_000275.1:p.Arg73=
NM_001173454.2:c.331C>A	NP_001166925.1:p.Arg111=
NM_001173455.2:c.217C>A	NP_001166926.1:p.Arg73=
NM_001173456.2:c.217C>A	NP_001166927.1:p.Arg73=