Canonical Allele Identifier: CA412394255

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373474T>C (hg19) ; chrX:g.19355356T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355356T>C , CM000685.2:g.19355356T>C	GRCh38
NC_000023.10:g.19373474T>C , CM000685.1:g.19373474T>C	GRCh37
NC_000023.9:g.19283395T>C	NCBI36
NG_016781.1:g.16464T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.632T>C	ENSP00000348062.6:p.Ile211Thr
ENST00000379805.4:c.*303T>C	ENSP00000369133.3:n.*303T>C
ENST00000417819.6:c.695T>C	ENSP00000404616.2:p.Ile232Thr
ENST00000423505.6:c.725T>C	ENSP00000406473.2:p.Ile242Thr
ENST00000481733.2:n.406T>C
ENST00000696704.1:c.426T>C	ENSP00000512823.1:p.Asp142=
ENST00000696705.1:c.*66T>C	ENSP00000512824.1:n.*66T>C
ENST00000422285.7:c.611T>C MANE Select	ENSP00000394382.2:p.Ile204Thr
ENST00000379806.9:c.725T>C	ENSP00000369134.5:p.Ile242Thr
ENST00000422285.6:c.611T>C	ENSP00000394382.2:p.Ile204Thr
ENST00000479146.1:n.446T>C
ENST00000481733.1:n.39T>C
ENST00000540249.5:c.518T>C	ENSP00000440761.1:p.Ile173Thr
ENST00000545074.5:c.632T>C	ENSP00000438550.1:p.Ile211Thr
NM_000284.3:c.611T>C	NP_000275.1:p.Ile204Thr
NM_001173454.1:c.725T>C	NP_001166925.1:p.Ile242Thr
NM_001173455.1:c.632T>C	NP_001166926.1:p.Ile211Thr
NM_001173456.1:c.518T>C	NP_001166927.1:p.Ile173Thr
XM_011545531.1:c.746T>C	XP_011543833.1:p.Ile249Thr
XM_011545532.1:c.653T>C	XP_011543834.1:p.Ile218Thr
XM_017029574.2:c.632T>C	XP_016885063.1:p.Ile211Thr
NM_000284.4:c.611T>C MANE Select	NP_000275.1:p.Ile204Thr
NM_001173454.2:c.725T>C	NP_001166925.1:p.Ile242Thr
NM_001173455.2:c.632T>C	NP_001166926.1:p.Ile211Thr
NM_001173456.2:c.518T>C	NP_001166927.1:p.Ile173Thr