Canonical Allele Identifier: CA412394638

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373594A>C (hg19) ; chrX:g.19355476A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355476A>C , CM000685.2:g.19355476A>C	GRCh38
NC_000023.10:g.19373594A>C , CM000685.1:g.19373594A>C	GRCh37
NC_000023.9:g.19283515A>C	NCBI36
NG_016781.1:g.16584A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.752A>C	ENSP00000348062.6:p.Lys251Thr
ENST00000379805.4:c.*423A>C	ENSP00000369133.3:n.*423A>C
ENST00000417819.6:c.815A>C	ENSP00000404616.2:p.Lys272Thr
ENST00000423505.6:c.845A>C	ENSP00000406473.2:p.Lys282Thr
ENST00000481733.2:n.526A>C
ENST00000696704.1:c.*63A>C	ENSP00000512823.1:n.*63A>C
ENST00000696705.1:c.*186A>C	ENSP00000512824.1:n.*186A>C
ENST00000422285.7:c.731A>C MANE Select	ENSP00000394382.2:p.Lys244Thr
ENST00000379806.9:c.845A>C	ENSP00000369134.5:p.Lys282Thr
ENST00000422285.6:c.731A>C	ENSP00000394382.2:p.Lys244Thr
ENST00000481733.1:n.159A>C
ENST00000540249.5:c.638A>C	ENSP00000440761.1:p.Lys213Thr
ENST00000545074.5:c.752A>C	ENSP00000438550.1:p.Lys251Thr
NM_000284.3:c.731A>C	NP_000275.1:p.Lys244Thr
NM_001173454.1:c.845A>C	NP_001166925.1:p.Lys282Thr
NM_001173455.1:c.752A>C	NP_001166926.1:p.Lys251Thr
NM_001173456.1:c.638A>C	NP_001166927.1:p.Lys213Thr
XM_011545531.1:c.866A>C	XP_011543833.1:p.Lys289Thr
XM_011545532.1:c.773A>C	XP_011543834.1:p.Lys258Thr
XM_017029574.2:c.752A>C	XP_016885063.1:p.Lys251Thr
NM_000284.4:c.731A>C MANE Select	NP_000275.1:p.Lys244Thr
NM_001173454.2:c.845A>C	NP_001166925.1:p.Lys282Thr
NM_001173455.2:c.752A>C	NP_001166926.1:p.Lys251Thr
NM_001173456.2:c.638A>C	NP_001166927.1:p.Lys213Thr