Canonical Allele Identifier: CA412394725

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2498132
• ClinVar RCV Id: RCV003219193
• MyVariant Identifiers: chrX:g.19373810G>A (hg19) ; chrX:g.19355692G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355692G>A , CM000685.2:g.19355692G>A	GRCh38
NC_000023.10:g.19373810G>A , CM000685.1:g.19373810G>A	GRCh37
NC_000023.9:g.19283731G>A	NCBI36
NG_016781.1:g.16800G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.787G>A	ENSP00000348062.6:p.Gly263Arg
ENST00000379805.4:c.*458G>A	ENSP00000369133.3:n.*458G>A
ENST00000417819.6:c.850G>A	ENSP00000404616.2:p.Gly284Arg
ENST00000423505.6:c.880G>A	ENSP00000406473.2:p.Gly294Arg
ENST00000481733.2:n.561G>A
ENST00000696704.1:c.*98G>A	ENSP00000512823.1:n.*98G>A
ENST00000696705.1:c.*221G>A	ENSP00000512824.1:n.*221G>A
ENST00000422285.7:c.766G>A MANE Select	ENSP00000394382.2:p.Gly256Arg
ENST00000379804.1:c.-78G>A	ENSP00000369132.1:n.-78G>A
ENST00000379806.9:c.880G>A	ENSP00000369134.5:p.Gly294Arg
ENST00000422285.6:c.766G>A	ENSP00000394382.2:p.Gly256Arg
ENST00000481733.1:n.194G>A
ENST00000540249.5:c.673G>A	ENSP00000440761.1:p.Gly225Arg
ENST00000545074.5:c.787G>A	ENSP00000438550.1:p.Gly263Arg
NM_000284.3:c.766G>A	NP_000275.1:p.Gly256Arg
NM_001173454.1:c.880G>A	NP_001166925.1:p.Gly294Arg
NM_001173455.1:c.787G>A	NP_001166926.1:p.Gly263Arg
NM_001173456.1:c.673G>A	NP_001166927.1:p.Gly225Arg
XM_011545531.1:c.901G>A	XP_011543833.1:p.Gly301Arg
XM_011545532.1:c.808G>A	XP_011543834.1:p.Gly270Arg
XM_017029574.2:c.787G>A	XP_016885063.1:p.Gly263Arg
NM_000284.4:c.766G>A MANE Select	NP_000275.1:p.Gly256Arg
NM_001173454.2:c.880G>A	NP_001166925.1:p.Gly294Arg
NM_001173455.2:c.787G>A	NP_001166926.1:p.Gly263Arg
NM_001173456.2:c.673G>A	NP_001166927.1:p.Gly225Arg