Canonical Allele Identifier: CA412394543

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373551G>A (hg19) ; chrX:g.19355433G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355433G>A , CM000685.2:g.19355433G>A	GRCh38
NC_000023.10:g.19373551G>A , CM000685.1:g.19373551G>A	GRCh37
NC_000023.9:g.19283472G>A	NCBI36
NG_016781.1:g.16541G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.709G>A	ENSP00000348062.6:p.Gly237Arg
ENST00000379805.4:c.*380G>A	ENSP00000369133.3:n.*380G>A
ENST00000417819.6:c.772G>A	ENSP00000404616.2:p.Gly258Arg
ENST00000423505.6:c.802G>A	ENSP00000406473.2:p.Gly268Arg
ENST00000481733.2:n.483G>A
ENST00000696704.1:c.*20G>A	ENSP00000512823.1:n.*20G>A
ENST00000696705.1:c.*143G>A	ENSP00000512824.1:n.*143G>A
ENST00000422285.7:c.688G>A MANE Select	ENSP00000394382.2:p.Gly230Arg
ENST00000379806.9:c.802G>A	ENSP00000369134.5:p.Gly268Arg
ENST00000422285.6:c.688G>A	ENSP00000394382.2:p.Gly230Arg
ENST00000479146.1:n.523G>A
ENST00000481733.1:n.116G>A
ENST00000540249.5:c.595G>A	ENSP00000440761.1:p.Gly199Arg
ENST00000545074.5:c.709G>A	ENSP00000438550.1:p.Gly237Arg
NM_000284.3:c.688G>A	NP_000275.1:p.Gly230Arg
NM_001173454.1:c.802G>A	NP_001166925.1:p.Gly268Arg
NM_001173455.1:c.709G>A	NP_001166926.1:p.Gly237Arg
NM_001173456.1:c.595G>A	NP_001166927.1:p.Gly199Arg
XM_011545531.1:c.823G>A	XP_011543833.1:p.Gly275Arg
XM_011545532.1:c.730G>A	XP_011543834.1:p.Gly244Arg
XM_017029574.2:c.709G>A	XP_016885063.1:p.Gly237Arg
NM_000284.4:c.688G>A MANE Select	NP_000275.1:p.Gly230Arg
NM_001173454.2:c.802G>A	NP_001166925.1:p.Gly268Arg
NM_001173455.2:c.709G>A	NP_001166926.1:p.Gly237Arg
NM_001173456.2:c.595G>A	NP_001166927.1:p.Gly199Arg