Canonical Allele Identifier: CA412395178

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375791C>A (hg19) ; chrX:g.19357673C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357673C>A , CM000685.2:g.19357673C>A	GRCh38
NC_000023.10:g.19375791C>A , CM000685.1:g.19375791C>A	GRCh37
NC_000023.9:g.19285712C>A	NCBI36
NG_016781.1:g.18781C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.874C>A	ENSP00000348062.6:p.Gln292Lys
ENST00000379805.4:c.*545C>A	ENSP00000369133.3:n.*545C>A
ENST00000417819.6:c.937C>A	ENSP00000404616.2:p.Gln313Lys
ENST00000423505.6:c.967C>A	ENSP00000406473.2:p.Gln323Lys
ENST00000481733.2:n.648C>A
ENST00000696704.1:c.*185C>A	ENSP00000512823.1:n.*185C>A
ENST00000696705.1:c.*308C>A	ENSP00000512824.1:n.*308C>A
ENST00000422285.7:c.853C>A MANE Select	ENSP00000394382.2:p.Gln285Lys
ENST00000379804.1:c.10C>A	ENSP00000369132.1:p.Gln4Lys
ENST00000379806.9:c.967C>A	ENSP00000369134.5:p.Gln323Lys
ENST00000422285.6:c.853C>A	ENSP00000394382.2:p.Gln285Lys
ENST00000478795.1:n.292C>A
ENST00000481733.1:n.281C>A
ENST00000540249.5:c.760C>A	ENSP00000440761.1:p.Gln254Lys
ENST00000545074.5:c.874C>A	ENSP00000438550.1:p.Gln292Lys
NM_000284.3:c.853C>A	NP_000275.1:p.Gln285Lys
NM_001173454.1:c.967C>A	NP_001166925.1:p.Gln323Lys
NM_001173455.1:c.874C>A	NP_001166926.1:p.Gln292Lys
NM_001173456.1:c.760C>A	NP_001166927.1:p.Gln254Lys
XM_011545531.1:c.988C>A	XP_011543833.1:p.Gln330Lys
XM_011545532.1:c.895C>A	XP_011543834.1:p.Gln299Lys
XM_017029574.2:c.874C>A	XP_016885063.1:p.Gln292Lys
NM_000284.4:c.853C>A MANE Select	NP_000275.1:p.Gln285Lys
NM_001173454.2:c.967C>A	NP_001166925.1:p.Gln323Lys
NM_001173455.2:c.874C>A	NP_001166926.1:p.Gln292Lys
NM_001173456.2:c.760C>A	NP_001166927.1:p.Gln254Lys