Canonical Allele Identifier: CA412396090

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377051A>C (hg19) ; chrX:g.19358933A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358933A>C , CM000685.2:g.19358933A>C	GRCh38
NC_000023.10:g.19377051A>C , CM000685.1:g.19377051A>C	GRCh37
NC_000023.9:g.19286972A>C	NCBI36
NG_016781.1:g.20041A>C
NG_021184.1:g.161329T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.938A>C	ENSP00000348062.6:p.Glu313Ala
ENST00000379805.4:c.*609A>C	ENSP00000369133.3:n.*609A>C
ENST00000417819.6:c.1001A>C	ENSP00000404616.2:p.Glu334Ala
ENST00000423505.6:c.1031A>C	ENSP00000406473.2:p.Glu344Ala
ENST00000481733.2:n.712A>C
ENST00000696704.1:c.*249A>C	ENSP00000512823.1:n.*249A>C
ENST00000696705.1:c.*372A>C	ENSP00000512824.1:n.*372A>C
ENST00000422285.7:c.917A>C MANE Select	ENSP00000394382.2:p.Glu306Ala
ENST00000379804.1:c.74A>C	ENSP00000369132.1:p.Glu25Ala
ENST00000379806.9:c.1031A>C	ENSP00000369134.5:p.Glu344Ala
ENST00000422285.6:c.917A>C	ENSP00000394382.2:p.Glu306Ala
ENST00000478795.1:n.356A>C
ENST00000481733.1:n.345A>C
ENST00000540249.5:c.824A>C	ENSP00000440761.1:p.Glu275Ala
ENST00000545074.5:c.938A>C	ENSP00000438550.1:p.Glu313Ala
NM_000284.3:c.917A>C	NP_000275.1:p.Glu306Ala
NM_001173454.1:c.1031A>C	NP_001166925.1:p.Glu344Ala
NM_001173455.1:c.938A>C	NP_001166926.1:p.Glu313Ala
NM_001173456.1:c.824A>C	NP_001166927.1:p.Glu275Ala
XM_011545531.1:c.1052A>C	XP_011543833.1:p.Glu351Ala
XM_011545532.1:c.959A>C	XP_011543834.1:p.Glu320Ala
XM_017029574.2:c.938A>C	XP_016885063.1:p.Glu313Ala
NM_000284.4:c.917A>C MANE Select	NP_000275.1:p.Glu306Ala
NM_001173454.2:c.1031A>C	NP_001166925.1:p.Glu344Ala
NM_001173455.2:c.938A>C	NP_001166926.1:p.Glu313Ala
NM_001173456.2:c.824A>C	NP_001166927.1:p.Glu275Ala