Canonical Allele Identifier: CA412395213

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375806C>G (hg19) ; chrX:g.19357688C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357688C>G , CM000685.2:g.19357688C>G	GRCh38
NC_000023.10:g.19375806C>G , CM000685.1:g.19375806C>G	GRCh37
NC_000023.9:g.19285727C>G	NCBI36
NG_016781.1:g.18796C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.889C>G	ENSP00000348062.6:p.His297Asp
ENST00000379805.4:c.*560C>G	ENSP00000369133.3:n.*560C>G
ENST00000417819.6:c.952C>G	ENSP00000404616.2:p.His318Asp
ENST00000423505.6:c.982C>G	ENSP00000406473.2:p.His328Asp
ENST00000481733.2:n.663C>G
ENST00000696704.1:c.*200C>G	ENSP00000512823.1:n.*200C>G
ENST00000696705.1:c.*323C>G	ENSP00000512824.1:n.*323C>G
ENST00000422285.7:c.868C>G MANE Select	ENSP00000394382.2:p.His290Asp
ENST00000379804.1:c.25C>G	ENSP00000369132.1:p.His9Asp
ENST00000379806.9:c.982C>G	ENSP00000369134.5:p.His328Asp
ENST00000422285.6:c.868C>G	ENSP00000394382.2:p.His290Asp
ENST00000478795.1:n.307C>G
ENST00000481733.1:n.296C>G
ENST00000540249.5:c.775C>G	ENSP00000440761.1:p.His259Asp
ENST00000545074.5:c.889C>G	ENSP00000438550.1:p.His297Asp
NM_000284.3:c.868C>G	NP_000275.1:p.His290Asp
NM_001173454.1:c.982C>G	NP_001166925.1:p.His328Asp
NM_001173455.1:c.889C>G	NP_001166926.1:p.His297Asp
NM_001173456.1:c.775C>G	NP_001166927.1:p.His259Asp
XM_011545531.1:c.1003C>G	XP_011543833.1:p.His335Asp
XM_011545532.1:c.910C>G	XP_011543834.1:p.His304Asp
XM_017029574.2:c.889C>G	XP_016885063.1:p.His297Asp
NM_000284.4:c.868C>G MANE Select	NP_000275.1:p.His290Asp
NM_001173454.2:c.982C>G	NP_001166925.1:p.His328Asp
NM_001173455.2:c.889C>G	NP_001166926.1:p.His297Asp
NM_001173456.2:c.775C>G	NP_001166927.1:p.His259Asp