Canonical Allele Identifier: CA412395229

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375813A>C (hg19) ; chrX:g.19357695A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357695A>C , CM000685.2:g.19357695A>C	GRCh38
NC_000023.10:g.19375813A>C , CM000685.1:g.19375813A>C	GRCh37
NC_000023.9:g.19285734A>C	NCBI36
NG_016781.1:g.18803A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.896A>C	ENSP00000348062.6:p.His299Pro
ENST00000379805.4:c.*567A>C	ENSP00000369133.3:n.*567A>C
ENST00000417819.6:c.959A>C	ENSP00000404616.2:p.His320Pro
ENST00000423505.6:c.989A>C	ENSP00000406473.2:p.His330Pro
ENST00000481733.2:n.670A>C
ENST00000696704.1:c.*207A>C	ENSP00000512823.1:n.*207A>C
ENST00000696705.1:c.*330A>C	ENSP00000512824.1:n.*330A>C
ENST00000422285.7:c.875A>C MANE Select	ENSP00000394382.2:p.His292Pro
ENST00000379804.1:c.32A>C	ENSP00000369132.1:p.His11Pro
ENST00000379806.9:c.989A>C	ENSP00000369134.5:p.His330Pro
ENST00000422285.6:c.875A>C	ENSP00000394382.2:p.His292Pro
ENST00000478795.1:n.314A>C
ENST00000481733.1:n.303A>C
ENST00000540249.5:c.782A>C	ENSP00000440761.1:p.His261Pro
ENST00000545074.5:c.896A>C	ENSP00000438550.1:p.His299Pro
NM_000284.3:c.875A>C	NP_000275.1:p.His292Pro
NM_001173454.1:c.989A>C	NP_001166925.1:p.His330Pro
NM_001173455.1:c.896A>C	NP_001166926.1:p.His299Pro
NM_001173456.1:c.782A>C	NP_001166927.1:p.His261Pro
XM_011545531.1:c.1010A>C	XP_011543833.1:p.His337Pro
XM_011545532.1:c.917A>C	XP_011543834.1:p.His306Pro
XM_017029574.2:c.896A>C	XP_016885063.1:p.His299Pro
NM_000284.4:c.875A>C MANE Select	NP_000275.1:p.His292Pro
NM_001173454.2:c.989A>C	NP_001166925.1:p.His330Pro
NM_001173455.2:c.896A>C	NP_001166926.1:p.His299Pro
NM_001173456.2:c.782A>C	NP_001166927.1:p.His261Pro