Canonical Allele Identifier: CA412395239

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375816G>T (hg19) ; chrX:g.19357698G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357698G>T , CM000685.2:g.19357698G>T	GRCh38
NC_000023.10:g.19375816G>T , CM000685.1:g.19375816G>T	GRCh37
NC_000023.9:g.19285737G>T	NCBI36
NG_016781.1:g.18806G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.899G>T	ENSP00000348062.6:p.Ser300Ile
ENST00000379805.4:c.*570G>T	ENSP00000369133.3:n.*570G>T
ENST00000417819.6:c.962G>T	ENSP00000404616.2:p.Ser321Ile
ENST00000423505.6:c.992G>T	ENSP00000406473.2:p.Ser331Ile
ENST00000481733.2:n.673G>T
ENST00000696704.1:c.*210G>T	ENSP00000512823.1:n.*210G>T
ENST00000696705.1:c.*333G>T	ENSP00000512824.1:n.*333G>T
ENST00000422285.7:c.878G>T MANE Select	ENSP00000394382.2:p.Ser293Ile
ENST00000379804.1:c.35G>T	ENSP00000369132.1:p.Ser12Ile
ENST00000379806.9:c.992G>T	ENSP00000369134.5:p.Ser331Ile
ENST00000422285.6:c.878G>T	ENSP00000394382.2:p.Ser293Ile
ENST00000478795.1:n.317G>T
ENST00000481733.1:n.306G>T
ENST00000540249.5:c.785G>T	ENSP00000440761.1:p.Ser262Ile
ENST00000545074.5:c.899G>T	ENSP00000438550.1:p.Ser300Ile
NM_000284.3:c.878G>T	NP_000275.1:p.Ser293Ile
NM_001173454.1:c.992G>T	NP_001166925.1:p.Ser331Ile
NM_001173455.1:c.899G>T	NP_001166926.1:p.Ser300Ile
NM_001173456.1:c.785G>T	NP_001166927.1:p.Ser262Ile
XM_011545531.1:c.1013G>T	XP_011543833.1:p.Ser338Ile
XM_011545532.1:c.920G>T	XP_011543834.1:p.Ser307Ile
XM_017029574.2:c.899G>T	XP_016885063.1:p.Ser300Ile
NM_000284.4:c.878G>T MANE Select	NP_000275.1:p.Ser293Ile
NM_001173454.2:c.992G>T	NP_001166925.1:p.Ser331Ile
NM_001173455.2:c.899G>T	NP_001166926.1:p.Ser300Ile
NM_001173456.2:c.785G>T	NP_001166927.1:p.Ser262Ile