Canonical Allele Identifier: CA412396281

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377132A>C (hg19) ; chrX:g.19359014A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359014A>C , CM000685.2:g.19359014A>C	GRCh38
NC_000023.10:g.19377132A>C , CM000685.1:g.19377132A>C	GRCh37
NC_000023.9:g.19287053A>C	NCBI36
NG_016781.1:g.20122A>C
NG_021184.1:g.161248T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1019A>C	ENSP00000348062.6:p.Glu340Ala
ENST00000379805.4:c.*690A>C	ENSP00000369133.3:n.*690A>C
ENST00000417819.6:c.1082A>C	ENSP00000404616.2:p.Glu361Ala
ENST00000423505.6:c.1112A>C	ENSP00000406473.2:p.Glu371Ala
ENST00000481733.2:n.793A>C
ENST00000696704.1:c.*330A>C	ENSP00000512823.1:n.*330A>C
ENST00000696705.1:c.*453A>C	ENSP00000512824.1:n.*453A>C
ENST00000422285.7:c.998A>C MANE Select	ENSP00000394382.2:p.Glu333Ala
ENST00000379804.1:c.155A>C	ENSP00000369132.1:p.Glu52Ala
ENST00000379806.9:c.1112A>C	ENSP00000369134.5:p.Glu371Ala
ENST00000422285.6:c.998A>C	ENSP00000394382.2:p.Glu333Ala
ENST00000478795.1:n.437A>C
ENST00000481733.1:n.426A>C
ENST00000540249.5:c.905A>C	ENSP00000440761.1:p.Glu302Ala
ENST00000545074.5:c.1019A>C	ENSP00000438550.1:p.Glu340Ala
NM_000284.3:c.998A>C	NP_000275.1:p.Glu333Ala
NM_001173454.1:c.1112A>C	NP_001166925.1:p.Glu371Ala
NM_001173455.1:c.1019A>C	NP_001166926.1:p.Glu340Ala
NM_001173456.1:c.905A>C	NP_001166927.1:p.Glu302Ala
XM_011545531.1:c.1133A>C	XP_011543833.1:p.Glu378Ala
XM_011545532.1:c.1040A>C	XP_011543834.1:p.Glu347Ala
XM_017029574.2:c.1019A>C	XP_016885063.1:p.Glu340Ala
NM_000284.4:c.998A>C MANE Select	NP_000275.1:p.Glu333Ala
NM_001173454.2:c.1112A>C	NP_001166925.1:p.Glu371Ala
NM_001173455.2:c.1019A>C	NP_001166926.1:p.Glu340Ala
NM_001173456.2:c.905A>C	NP_001166927.1:p.Glu302Ala