Canonical Allele Identifier: CA10363138

Gene: PDHA1

Linked Data

• dbSNP Id: rs768957853
• ExAC: X:19375787 G / A
• gnomAD v2: X-19375787-G-A
• gnomAD v4: X-19357669-G-A
• MyVariant Identifiers: chrX:g.19375787G>A (hg19) ; chrX:g.19357669G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357669G>A , CM000685.2:g.19357669G>A	GRCh38
NC_000023.10:g.19375787G>A , CM000685.1:g.19375787G>A	GRCh37
NC_000023.9:g.19285708G>A	NCBI36
NG_016781.1:g.18777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.870G>A	ENSP00000348062.6:p.Glu290=
ENST00000379805.4:c.*541G>A	ENSP00000369133.3:n.*541G>A
ENST00000417819.6:c.933G>A	ENSP00000404616.2:p.Glu311=
ENST00000423505.6:c.963G>A	ENSP00000406473.2:p.Glu321=
ENST00000481733.2:n.644G>A
ENST00000696704.1:c.*181G>A	ENSP00000512823.1:n.*181G>A
ENST00000696705.1:c.*304G>A	ENSP00000512824.1:n.*304G>A
ENST00000422285.7:c.849G>A MANE Select	ENSP00000394382.2:p.Glu283=
ENST00000379804.1:c.6G>A	ENSP00000369132.1:p.Glu2=
ENST00000379806.9:c.963G>A	ENSP00000369134.5:p.Glu321=
ENST00000422285.6:c.849G>A	ENSP00000394382.2:p.Glu283=
ENST00000478795.1:n.288G>A
ENST00000481733.1:n.277G>A
ENST00000540249.5:c.756G>A	ENSP00000440761.1:p.Glu252=
ENST00000545074.5:c.870G>A	ENSP00000438550.1:p.Glu290=
NM_000284.3:c.849G>A	NP_000275.1:p.Glu283=
NM_001173454.1:c.963G>A	NP_001166925.1:p.Glu321=
NM_001173455.1:c.870G>A	NP_001166926.1:p.Glu290=
NM_001173456.1:c.756G>A	NP_001166927.1:p.Glu252=
XM_011545531.1:c.984G>A	XP_011543833.1:p.Glu328=
XM_011545532.1:c.891G>A	XP_011543834.1:p.Glu297=
XM_017029574.2:c.870G>A	XP_016885063.1:p.Glu290=
NM_000284.4:c.849G>A MANE Select	NP_000275.1:p.Glu283=
NM_001173454.2:c.963G>A	NP_001166925.1:p.Glu321=
NM_001173455.2:c.870G>A	NP_001166926.1:p.Glu290=
NM_001173456.2:c.756G>A	NP_001166927.1:p.Glu252=