Canonical Allele Identifier: CA412394681

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373612C>A (hg19) ; chrX:g.19355494C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355494C>A , CM000685.2:g.19355494C>A	GRCh38
NC_000023.10:g.19373612C>A , CM000685.1:g.19373612C>A	GRCh37
NC_000023.9:g.19283533C>A	NCBI36
NG_016781.1:g.16602C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.770C>A	ENSP00000348062.6:p.Pro257His
ENST00000379805.4:c.*441C>A	ENSP00000369133.3:n.*441C>A
ENST00000417819.6:c.833C>A	ENSP00000404616.2:p.Pro278His
ENST00000423505.6:c.863C>A	ENSP00000406473.2:p.Pro288His
ENST00000481733.2:n.544C>A
ENST00000696704.1:c.*81C>A	ENSP00000512823.1:n.*81C>A
ENST00000696705.1:c.*204C>A	ENSP00000512824.1:n.*204C>A
ENST00000422285.7:c.749C>A MANE Select	ENSP00000394382.2:p.Pro250His
ENST00000379806.9:c.863C>A	ENSP00000369134.5:p.Pro288His
ENST00000422285.6:c.749C>A	ENSP00000394382.2:p.Pro250His
ENST00000481733.1:n.177C>A
ENST00000540249.5:c.656C>A	ENSP00000440761.1:p.Pro219His
ENST00000545074.5:c.770C>A	ENSP00000438550.1:p.Pro257His
NM_000284.3:c.749C>A	NP_000275.1:p.Pro250His
NM_001173454.1:c.863C>A	NP_001166925.1:p.Pro288His
NM_001173455.1:c.770C>A	NP_001166926.1:p.Pro257His
NM_001173456.1:c.656C>A	NP_001166927.1:p.Pro219His
XM_011545531.1:c.884C>A	XP_011543833.1:p.Pro295His
XM_011545532.1:c.791C>A	XP_011543834.1:p.Pro264His
XM_017029574.2:c.770C>A	XP_016885063.1:p.Pro257His
NM_000284.4:c.749C>A MANE Select	NP_000275.1:p.Pro250His
NM_001173454.2:c.863C>A	NP_001166925.1:p.Pro288His
NM_001173455.2:c.770C>A	NP_001166926.1:p.Pro257His
NM_001173456.2:c.656C>A	NP_001166927.1:p.Pro219His