Canonical Allele Identifier: CA412395216

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375807A>G (hg19) ; chrX:g.19357689A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357689A>G , CM000685.2:g.19357689A>G	GRCh38
NC_000023.10:g.19375807A>G , CM000685.1:g.19375807A>G	GRCh37
NC_000023.9:g.19285728A>G	NCBI36
NG_016781.1:g.18797A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.890A>G	ENSP00000348062.6:p.His297Arg
ENST00000379805.4:c.*561A>G	ENSP00000369133.3:n.*561A>G
ENST00000417819.6:c.953A>G	ENSP00000404616.2:p.His318Arg
ENST00000423505.6:c.983A>G	ENSP00000406473.2:p.His328Arg
ENST00000481733.2:n.664A>G
ENST00000696704.1:c.*201A>G	ENSP00000512823.1:n.*201A>G
ENST00000696705.1:c.*324A>G	ENSP00000512824.1:n.*324A>G
ENST00000422285.7:c.869A>G MANE Select	ENSP00000394382.2:p.His290Arg
ENST00000379804.1:c.26A>G	ENSP00000369132.1:p.His9Arg
ENST00000379806.9:c.983A>G	ENSP00000369134.5:p.His328Arg
ENST00000422285.6:c.869A>G	ENSP00000394382.2:p.His290Arg
ENST00000478795.1:n.308A>G
ENST00000481733.1:n.297A>G
ENST00000540249.5:c.776A>G	ENSP00000440761.1:p.His259Arg
ENST00000545074.5:c.890A>G	ENSP00000438550.1:p.His297Arg
NM_000284.3:c.869A>G	NP_000275.1:p.His290Arg
NM_001173454.1:c.983A>G	NP_001166925.1:p.His328Arg
NM_001173455.1:c.890A>G	NP_001166926.1:p.His297Arg
NM_001173456.1:c.776A>G	NP_001166927.1:p.His259Arg
XM_011545531.1:c.1004A>G	XP_011543833.1:p.His335Arg
XM_011545532.1:c.911A>G	XP_011543834.1:p.His304Arg
XM_017029574.2:c.890A>G	XP_016885063.1:p.His297Arg
NM_000284.4:c.869A>G MANE Select	NP_000275.1:p.His290Arg
NM_001173454.2:c.983A>G	NP_001166925.1:p.His328Arg
NM_001173455.2:c.890A>G	NP_001166926.1:p.His297Arg
NM_001173456.2:c.776A>G	NP_001166927.1:p.His259Arg