Canonical Allele Identifier: CA412395218

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375808C>A (hg19) ; chrX:g.19357690C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357690C>A , CM000685.2:g.19357690C>A	GRCh38
NC_000023.10:g.19375808C>A , CM000685.1:g.19375808C>A	GRCh37
NC_000023.9:g.19285729C>A	NCBI36
NG_016781.1:g.18798C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.891C>A	ENSP00000348062.6:p.His297Gln
ENST00000379805.4:c.*562C>A	ENSP00000369133.3:n.*562C>A
ENST00000417819.6:c.954C>A	ENSP00000404616.2:p.His318Gln
ENST00000423505.6:c.984C>A	ENSP00000406473.2:p.His328Gln
ENST00000481733.2:n.665C>A
ENST00000696704.1:c.*202C>A	ENSP00000512823.1:n.*202C>A
ENST00000696705.1:c.*325C>A	ENSP00000512824.1:n.*325C>A
ENST00000422285.7:c.870C>A MANE Select	ENSP00000394382.2:p.His290Gln
ENST00000379804.1:c.27C>A	ENSP00000369132.1:p.His9Gln
ENST00000379806.9:c.984C>A	ENSP00000369134.5:p.His328Gln
ENST00000422285.6:c.870C>A	ENSP00000394382.2:p.His290Gln
ENST00000478795.1:n.309C>A
ENST00000481733.1:n.298C>A
ENST00000540249.5:c.777C>A	ENSP00000440761.1:p.His259Gln
ENST00000545074.5:c.891C>A	ENSP00000438550.1:p.His297Gln
NM_000284.3:c.870C>A	NP_000275.1:p.His290Gln
NM_001173454.1:c.984C>A	NP_001166925.1:p.His328Gln
NM_001173455.1:c.891C>A	NP_001166926.1:p.His297Gln
NM_001173456.1:c.777C>A	NP_001166927.1:p.His259Gln
XM_011545531.1:c.1005C>A	XP_011543833.1:p.His335Gln
XM_011545532.1:c.912C>A	XP_011543834.1:p.His304Gln
XM_017029574.2:c.891C>A	XP_016885063.1:p.His297Gln
NM_000284.4:c.870C>A MANE Select	NP_000275.1:p.His290Gln
NM_001173454.2:c.984C>A	NP_001166925.1:p.His328Gln
NM_001173455.2:c.891C>A	NP_001166926.1:p.His297Gln
NM_001173456.2:c.777C>A	NP_001166927.1:p.His259Gln