Canonical Allele Identifier: CA412395240

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375817T>A (hg19) ; chrX:g.19357699T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357699T>A , CM000685.2:g.19357699T>A	GRCh38
NC_000023.10:g.19375817T>A , CM000685.1:g.19375817T>A	GRCh37
NC_000023.9:g.19285738T>A	NCBI36
NG_016781.1:g.18807T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.900T>A	ENSP00000348062.6:p.Ser300Arg
ENST00000379805.4:c.*571T>A	ENSP00000369133.3:n.*571T>A
ENST00000417819.6:c.963T>A	ENSP00000404616.2:p.Ser321Arg
ENST00000423505.6:c.993T>A	ENSP00000406473.2:p.Ser331Arg
ENST00000481733.2:n.674T>A
ENST00000696704.1:c.*211T>A	ENSP00000512823.1:n.*211T>A
ENST00000696705.1:c.*334T>A	ENSP00000512824.1:n.*334T>A
ENST00000422285.7:c.879T>A MANE Select	ENSP00000394382.2:p.Ser293Arg
ENST00000379804.1:c.36T>A	ENSP00000369132.1:p.Ser12Arg
ENST00000379806.9:c.993T>A	ENSP00000369134.5:p.Ser331Arg
ENST00000422285.6:c.879T>A	ENSP00000394382.2:p.Ser293Arg
ENST00000478795.1:n.318T>A
ENST00000481733.1:n.307T>A
ENST00000540249.5:c.786T>A	ENSP00000440761.1:p.Ser262Arg
ENST00000545074.5:c.900T>A	ENSP00000438550.1:p.Ser300Arg
NM_000284.3:c.879T>A	NP_000275.1:p.Ser293Arg
NM_001173454.1:c.993T>A	NP_001166925.1:p.Ser331Arg
NM_001173455.1:c.900T>A	NP_001166926.1:p.Ser300Arg
NM_001173456.1:c.786T>A	NP_001166927.1:p.Ser262Arg
XM_011545531.1:c.1014T>A	XP_011543833.1:p.Ser338Arg
XM_011545532.1:c.921T>A	XP_011543834.1:p.Ser307Arg
XM_017029574.2:c.900T>A	XP_016885063.1:p.Ser300Arg
NM_000284.4:c.879T>A MANE Select	NP_000275.1:p.Ser293Arg
NM_001173454.2:c.993T>A	NP_001166925.1:p.Ser331Arg
NM_001173455.2:c.900T>A	NP_001166926.1:p.Ser300Arg
NM_001173456.2:c.786T>A	NP_001166927.1:p.Ser262Arg