Canonical Allele Identifier: CA412394752

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373820T>C (hg19) ; chrX:g.19355702T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355702T>C , CM000685.2:g.19355702T>C	GRCh38
NC_000023.10:g.19373820T>C , CM000685.1:g.19373820T>C	GRCh37
NC_000023.9:g.19283741T>C	NCBI36
NG_016781.1:g.16810T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.797T>C	ENSP00000348062.6:p.Ile266Thr
ENST00000379805.4:c.*468T>C	ENSP00000369133.3:n.*468T>C
ENST00000417819.6:c.860T>C	ENSP00000404616.2:p.Ile287Thr
ENST00000423505.6:c.890T>C	ENSP00000406473.2:p.Ile297Thr
ENST00000481733.2:n.571T>C
ENST00000696704.1:c.*108T>C	ENSP00000512823.1:n.*108T>C
ENST00000696705.1:c.*231T>C	ENSP00000512824.1:n.*231T>C
ENST00000422285.7:c.776T>C MANE Select	ENSP00000394382.2:p.Ile259Thr
ENST00000379804.1:c.-68T>C	ENSP00000369132.1:n.-68T>C
ENST00000379806.9:c.890T>C	ENSP00000369134.5:p.Ile297Thr
ENST00000422285.6:c.776T>C	ENSP00000394382.2:p.Ile259Thr
ENST00000481733.1:n.204T>C
ENST00000540249.5:c.683T>C	ENSP00000440761.1:p.Ile228Thr
ENST00000545074.5:c.797T>C	ENSP00000438550.1:p.Ile266Thr
NM_000284.3:c.776T>C	NP_000275.1:p.Ile259Thr
NM_001173454.1:c.890T>C	NP_001166925.1:p.Ile297Thr
NM_001173455.1:c.797T>C	NP_001166926.1:p.Ile266Thr
NM_001173456.1:c.683T>C	NP_001166927.1:p.Ile228Thr
XM_011545531.1:c.911T>C	XP_011543833.1:p.Ile304Thr
XM_011545532.1:c.818T>C	XP_011543834.1:p.Ile273Thr
XM_017029574.2:c.797T>C	XP_016885063.1:p.Ile266Thr
NM_000284.4:c.776T>C MANE Select	NP_000275.1:p.Ile259Thr
NM_001173454.2:c.890T>C	NP_001166925.1:p.Ile297Thr
NM_001173455.2:c.797T>C	NP_001166926.1:p.Ile266Thr
NM_001173456.2:c.683T>C	NP_001166927.1:p.Ile228Thr