Canonical Allele Identifier: CA412393060

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19371221A>C (hg19) ; chrX:g.19353103A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19353103A>C , CM000685.2:g.19353103A>C	GRCh38
NC_000023.10:g.19371221A>C , CM000685.1:g.19371221A>C	GRCh37
NC_000023.9:g.19281142A>C	NCBI36
NG_016781.1:g.14211A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.461A>C	ENSP00000348062.6:p.Lys154Thr
ENST00000379805.4:c.440A>C	ENSP00000369133.3:p.Lys147Thr
ENST00000417819.6:c.524A>C	ENSP00000404616.2:p.Lys175Thr
ENST00000423505.6:c.554A>C	ENSP00000406473.2:p.Lys185Thr
ENST00000696704.1:c.418+1696A>C	ENSP00000512823.1:n.418+1696A>C
ENST00000696705.1:c.419-1388A>C	ENSP00000512824.1:n.419-1388A>C
ENST00000422285.7:c.440A>C MANE Select	ENSP00000394382.2:p.Lys147Thr
ENST00000355808.9:c.461A>C	ENSP00000348062.5:p.Lys154Thr
ENST00000379805.3:c.440A>C	ENSP00000369133.3:p.Lys147Thr
ENST00000379806.9:c.554A>C	ENSP00000369134.5:p.Lys185Thr
ENST00000422285.6:c.440A>C	ENSP00000394382.2:p.Lys147Thr
ENST00000423505.5:c.554A>C	ENSP00000406473.1:p.Lys185Thr
ENST00000479146.1:n.275A>C
ENST00000540249.5:c.440A>C	ENSP00000440761.1:p.Lys147Thr
ENST00000545074.5:c.461A>C	ENSP00000438550.1:p.Lys154Thr
NM_000284.3:c.440A>C	NP_000275.1:p.Lys147Thr
NM_001173454.1:c.554A>C	NP_001166925.1:p.Lys185Thr
NM_001173455.1:c.461A>C	NP_001166926.1:p.Lys154Thr
NM_001173456.1:c.440A>C	NP_001166927.1:p.Lys147Thr
XM_011545531.1:c.575A>C	XP_011543833.1:p.Lys192Thr
XM_011545532.1:c.575A>C	XP_011543834.1:p.Lys192Thr
XM_017029574.2:c.554A>C	XP_016885063.1:p.Lys185Thr
NM_000284.4:c.440A>C MANE Select	NP_000275.1:p.Lys147Thr
NM_001173454.2:c.554A>C	NP_001166925.1:p.Lys185Thr
NM_001173455.2:c.461A>C	NP_001166926.1:p.Lys154Thr
NM_001173456.2:c.440A>C	NP_001166927.1:p.Lys147Thr