Canonical Allele Identifier: CA412395145

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375776A>C (hg19) ; chrX:g.19357658A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357658A>C , CM000685.2:g.19357658A>C	GRCh38
NC_000023.10:g.19375776A>C , CM000685.1:g.19375776A>C	GRCh37
NC_000023.9:g.19285697A>C	NCBI36
NG_016781.1:g.18766A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.859A>C	ENSP00000348062.6:p.Ile287Leu
ENST00000379805.4:c.*530A>C	ENSP00000369133.3:n.*530A>C
ENST00000417819.6:c.922A>C	ENSP00000404616.2:p.Ile308Leu
ENST00000423505.6:c.952A>C	ENSP00000406473.2:p.Ile318Leu
ENST00000481733.2:n.633A>C
ENST00000696704.1:c.*170A>C	ENSP00000512823.1:n.*170A>C
ENST00000696705.1:c.*293A>C	ENSP00000512824.1:n.*293A>C
ENST00000422285.7:c.838A>C MANE Select	ENSP00000394382.2:p.Ile280Leu
ENST00000379804.1:c.-6A>C	ENSP00000369132.1:n.-6A>C
ENST00000379806.9:c.952A>C	ENSP00000369134.5:p.Ile318Leu
ENST00000422285.6:c.838A>C	ENSP00000394382.2:p.Ile280Leu
ENST00000478795.1:n.277A>C
ENST00000481733.1:n.266A>C
ENST00000540249.5:c.745A>C	ENSP00000440761.1:p.Ile249Leu
ENST00000545074.5:c.859A>C	ENSP00000438550.1:p.Ile287Leu
NM_000284.3:c.838A>C	NP_000275.1:p.Ile280Leu
NM_001173454.1:c.952A>C	NP_001166925.1:p.Ile318Leu
NM_001173455.1:c.859A>C	NP_001166926.1:p.Ile287Leu
NM_001173456.1:c.745A>C	NP_001166927.1:p.Ile249Leu
XM_011545531.1:c.973A>C	XP_011543833.1:p.Ile325Leu
XM_011545532.1:c.880A>C	XP_011543834.1:p.Ile294Leu
XM_017029574.2:c.859A>C	XP_016885063.1:p.Ile287Leu
NM_000284.4:c.838A>C MANE Select	NP_000275.1:p.Ile280Leu
NM_001173454.2:c.952A>C	NP_001166925.1:p.Ile318Leu
NM_001173455.2:c.859A>C	NP_001166926.1:p.Ile287Leu
NM_001173456.2:c.745A>C	NP_001166927.1:p.Ile249Leu