Canonical Allele Identifier: CA412396091

Gene: PDHA1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.938A>G	ENSP00000348062.6:p.Glu313Gly
ENST00000379805.4:c.*609A>G	ENSP00000369133.3:n.*609A>G
ENST00000417819.6:c.1001A>G	ENSP00000404616.2:p.Glu334Gly
ENST00000423505.6:c.1031A>G	ENSP00000406473.2:p.Glu344Gly
ENST00000481733.2:n.712A>G
ENST00000696704.1:c.*249A>G	ENSP00000512823.1:n.*249A>G
ENST00000696705.1:c.*372A>G	ENSP00000512824.1:n.*372A>G
ENST00000422285.7:c.917A>G MANE Select	ENSP00000394382.2:p.Glu306Gly
ENST00000379804.1:c.74A>G	ENSP00000369132.1:p.Glu25Gly
ENST00000379806.9:c.1031A>G	ENSP00000369134.5:p.Glu344Gly
ENST00000422285.6:c.917A>G	ENSP00000394382.2:p.Glu306Gly
ENST00000478795.1:n.356A>G
ENST00000481733.1:n.345A>G
ENST00000540249.5:c.824A>G	ENSP00000440761.1:p.Glu275Gly
ENST00000545074.5:c.938A>G	ENSP00000438550.1:p.Glu313Gly
NM_000284.3:c.917A>G	NP_000275.1:p.Glu306Gly
NM_001173454.1:c.1031A>G	NP_001166925.1:p.Glu344Gly
NM_001173455.1:c.938A>G	NP_001166926.1:p.Glu313Gly
NM_001173456.1:c.824A>G	NP_001166927.1:p.Glu275Gly
XM_011545531.1:c.1052A>G	XP_011543833.1:p.Glu351Gly
XM_011545532.1:c.959A>G	XP_011543834.1:p.Glu320Gly
XM_017029574.2:c.938A>G	XP_016885063.1:p.Glu313Gly
NM_000284.4:c.917A>G MANE Select	NP_000275.1:p.Glu306Gly
NM_001173454.2:c.1031A>G	NP_001166925.1:p.Glu344Gly
NM_001173455.2:c.938A>G	NP_001166926.1:p.Glu313Gly
NM_001173456.2:c.824A>G	NP_001166927.1:p.Glu275Gly