Canonical Allele Identifier: CA412394247

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373473A>C (hg19) ; chrX:g.19355355A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355355A>C , CM000685.2:g.19355355A>C	GRCh38
NC_000023.10:g.19373473A>C , CM000685.1:g.19373473A>C	GRCh37
NC_000023.9:g.19283394A>C	NCBI36
NG_016781.1:g.16463A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.631A>C	ENSP00000348062.6:p.Ile211Leu
ENST00000379805.4:c.*302A>C	ENSP00000369133.3:n.*302A>C
ENST00000417819.6:c.694A>C	ENSP00000404616.2:p.Ile232Leu
ENST00000423505.6:c.724A>C	ENSP00000406473.2:p.Ile242Leu
ENST00000481733.2:n.405A>C
ENST00000696704.1:c.425A>C	ENSP00000512823.1:p.Asp142Ala
ENST00000696705.1:c.*65A>C	ENSP00000512824.1:n.*65A>C
ENST00000422285.7:c.610A>C MANE Select	ENSP00000394382.2:p.Ile204Leu
ENST00000379806.9:c.724A>C	ENSP00000369134.5:p.Ile242Leu
ENST00000422285.6:c.610A>C	ENSP00000394382.2:p.Ile204Leu
ENST00000479146.1:n.445A>C
ENST00000481733.1:n.38A>C
ENST00000540249.5:c.517A>C	ENSP00000440761.1:p.Ile173Leu
ENST00000545074.5:c.631A>C	ENSP00000438550.1:p.Ile211Leu
NM_000284.3:c.610A>C	NP_000275.1:p.Ile204Leu
NM_001173454.1:c.724A>C	NP_001166925.1:p.Ile242Leu
NM_001173455.1:c.631A>C	NP_001166926.1:p.Ile211Leu
NM_001173456.1:c.517A>C	NP_001166927.1:p.Ile173Leu
XM_011545531.1:c.745A>C	XP_011543833.1:p.Ile249Leu
XM_011545532.1:c.652A>C	XP_011543834.1:p.Ile218Leu
XM_017029574.2:c.631A>C	XP_016885063.1:p.Ile211Leu
NM_000284.4:c.610A>C MANE Select	NP_000275.1:p.Ile204Leu
NM_001173454.2:c.724A>C	NP_001166925.1:p.Ile242Leu
NM_001173455.2:c.631A>C	NP_001166926.1:p.Ile211Leu
NM_001173456.2:c.517A>C	NP_001166927.1:p.Ile173Leu