Canonical Allele Identifier: CA412396127

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377066G>T (hg19) ; chrX:g.19358948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358948G>T , CM000685.2:g.19358948G>T	GRCh38
NC_000023.10:g.19377066G>T , CM000685.1:g.19377066G>T	GRCh37
NC_000023.9:g.19286987G>T	NCBI36
NG_016781.1:g.20056G>T
NG_021184.1:g.161314C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.953G>T	ENSP00000348062.6:p.Arg318Ile
ENST00000379805.4:c.*624G>T	ENSP00000369133.3:n.*624G>T
ENST00000417819.6:c.1016G>T	ENSP00000404616.2:p.Arg339Ile
ENST00000423505.6:c.1046G>T	ENSP00000406473.2:p.Arg349Ile
ENST00000481733.2:n.727G>T
ENST00000696704.1:c.*264G>T	ENSP00000512823.1:n.*264G>T
ENST00000696705.1:c.*387G>T	ENSP00000512824.1:n.*387G>T
ENST00000422285.7:c.932G>T MANE Select	ENSP00000394382.2:p.Arg311Ile
ENST00000379804.1:c.89G>T	ENSP00000369132.1:p.Arg30Ile
ENST00000379806.9:c.1046G>T	ENSP00000369134.5:p.Arg349Ile
ENST00000422285.6:c.932G>T	ENSP00000394382.2:p.Arg311Ile
ENST00000478795.1:n.371G>T
ENST00000481733.1:n.360G>T
ENST00000540249.5:c.839G>T	ENSP00000440761.1:p.Arg280Ile
ENST00000545074.5:c.953G>T	ENSP00000438550.1:p.Arg318Ile
NM_000284.3:c.932G>T	NP_000275.1:p.Arg311Ile
NM_001173454.1:c.1046G>T	NP_001166925.1:p.Arg349Ile
NM_001173455.1:c.953G>T	NP_001166926.1:p.Arg318Ile
NM_001173456.1:c.839G>T	NP_001166927.1:p.Arg280Ile
XM_011545531.1:c.1067G>T	XP_011543833.1:p.Arg356Ile
XM_011545532.1:c.974G>T	XP_011543834.1:p.Arg325Ile
XM_017029574.2:c.953G>T	XP_016885063.1:p.Arg318Ile
NM_000284.4:c.932G>T MANE Select	NP_000275.1:p.Arg311Ile
NM_001173454.2:c.1046G>T	NP_001166925.1:p.Arg349Ile
NM_001173455.2:c.953G>T	NP_001166926.1:p.Arg318Ile
NM_001173456.2:c.839G>T	NP_001166927.1:p.Arg280Ile