Canonical Allele Identifier: CA412395289

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375837G>C (hg19) ; chrX:g.19357719G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357719G>C , CM000685.2:g.19357719G>C	GRCh38
NC_000023.10:g.19375837G>C , CM000685.1:g.19375837G>C	GRCh37
NC_000023.9:g.19285758G>C	NCBI36
NG_016781.1:g.18827G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920G>C	ENSP00000348062.6:p.Ser307Thr
ENST00000379805.4:c.*591G>C	ENSP00000369133.3:n.*591G>C
ENST00000417819.6:c.983G>C	ENSP00000404616.2:p.Ser328Thr
ENST00000423505.6:c.1013G>C	ENSP00000406473.2:p.Ser338Thr
ENST00000481733.2:n.694G>C
ENST00000696704.1:c.*231G>C	ENSP00000512823.1:n.*231G>C
ENST00000696705.1:c.*354G>C	ENSP00000512824.1:n.*354G>C
ENST00000422285.7:c.899G>C MANE Select	ENSP00000394382.2:p.Ser300Thr
ENST00000379804.1:c.56G>C	ENSP00000369132.1:p.Ser19Thr
ENST00000379806.9:c.1013G>C	ENSP00000369134.5:p.Ser338Thr
ENST00000422285.6:c.899G>C	ENSP00000394382.2:p.Ser300Thr
ENST00000478795.1:n.338G>C
ENST00000481733.1:n.327G>C
ENST00000540249.5:c.806G>C	ENSP00000440761.1:p.Ser269Thr
ENST00000545074.5:c.920G>C	ENSP00000438550.1:p.Ser307Thr
NM_000284.3:c.899G>C	NP_000275.1:p.Ser300Thr
NM_001173454.1:c.1013G>C	NP_001166925.1:p.Ser338Thr
NM_001173455.1:c.920G>C	NP_001166926.1:p.Ser307Thr
NM_001173456.1:c.806G>C	NP_001166927.1:p.Ser269Thr
XM_011545531.1:c.1034G>C	XP_011543833.1:p.Ser345Thr
XM_011545532.1:c.941G>C	XP_011543834.1:p.Ser314Thr
XM_017029574.2:c.920G>C	XP_016885063.1:p.Ser307Thr
NM_000284.4:c.899G>C MANE Select	NP_000275.1:p.Ser300Thr
NM_001173454.2:c.1013G>C	NP_001166925.1:p.Ser338Thr
NM_001173455.2:c.920G>C	NP_001166926.1:p.Ser307Thr
NM_001173456.2:c.806G>C	NP_001166927.1:p.Ser269Thr