Canonical Allele Identifier: CA412395255

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375822G>C (hg19) ; chrX:g.19357704G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357704G>C , CM000685.2:g.19357704G>C	GRCh38
NC_000023.10:g.19375822G>C , CM000685.1:g.19375822G>C	GRCh37
NC_000023.9:g.19285743G>C	NCBI36
NG_016781.1:g.18812G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.905G>C	ENSP00000348062.6:p.Ser302Thr
ENST00000379805.4:c.*576G>C	ENSP00000369133.3:n.*576G>C
ENST00000417819.6:c.968G>C	ENSP00000404616.2:p.Ser323Thr
ENST00000423505.6:c.998G>C	ENSP00000406473.2:p.Ser333Thr
ENST00000481733.2:n.679G>C
ENST00000696704.1:c.*216G>C	ENSP00000512823.1:n.*216G>C
ENST00000696705.1:c.*339G>C	ENSP00000512824.1:n.*339G>C
ENST00000422285.7:c.884G>C MANE Select	ENSP00000394382.2:p.Ser295Thr
ENST00000379804.1:c.41G>C	ENSP00000369132.1:p.Ser14Thr
ENST00000379806.9:c.998G>C	ENSP00000369134.5:p.Ser333Thr
ENST00000422285.6:c.884G>C	ENSP00000394382.2:p.Ser295Thr
ENST00000478795.1:n.323G>C
ENST00000481733.1:n.312G>C
ENST00000540249.5:c.791G>C	ENSP00000440761.1:p.Ser264Thr
ENST00000545074.5:c.905G>C	ENSP00000438550.1:p.Ser302Thr
NM_000284.3:c.884G>C	NP_000275.1:p.Ser295Thr
NM_001173454.1:c.998G>C	NP_001166925.1:p.Ser333Thr
NM_001173455.1:c.905G>C	NP_001166926.1:p.Ser302Thr
NM_001173456.1:c.791G>C	NP_001166927.1:p.Ser264Thr
XM_011545531.1:c.1019G>C	XP_011543833.1:p.Ser340Thr
XM_011545532.1:c.926G>C	XP_011543834.1:p.Ser309Thr
XM_017029574.2:c.905G>C	XP_016885063.1:p.Ser302Thr
NM_000284.4:c.884G>C MANE Select	NP_000275.1:p.Ser295Thr
NM_001173454.2:c.998G>C	NP_001166925.1:p.Ser333Thr
NM_001173455.2:c.905G>C	NP_001166926.1:p.Ser302Thr
NM_001173456.2:c.791G>C	NP_001166927.1:p.Ser264Thr