Canonical Allele Identifier: CA515486104

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373845G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355727G>A , CM000685.2:g.19355727G>A	GRCh38
NC_000023.10:g.19373845G>A , CM000685.1:g.19373845G>A	GRCh37
NC_000023.9:g.19283766G>A	NCBI36
NG_016781.1:g.16835G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.822G>A	ENSP00000348062.6:p.Arg274=
ENST00000379805.4:c.*493G>A	ENSP00000369133.3:n.*493G>A
ENST00000417819.6:c.885G>A	ENSP00000404616.2:p.Arg295=
ENST00000423505.6:c.915G>A	ENSP00000406473.2:p.Arg305=
ENST00000481733.2:n.596G>A
ENST00000696704.1:c.*133G>A	ENSP00000512823.1:n.*133G>A
ENST00000696705.1:c.*256G>A	ENSP00000512824.1:n.*256G>A
ENST00000422285.7:c.801G>A MANE Select	ENSP00000394382.2:p.Arg267=
ENST00000379804.1:c.-43G>A	ENSP00000369132.1:n.-43G>A
ENST00000379806.9:c.915G>A	ENSP00000369134.5:p.Arg305=
ENST00000422285.6:c.801G>A	ENSP00000394382.2:p.Arg267=
ENST00000481733.1:n.229G>A
ENST00000540249.5:c.708G>A	ENSP00000440761.1:p.Arg236=
ENST00000545074.5:c.822G>A	ENSP00000438550.1:p.Arg274=
NM_000284.3:c.801G>A	NP_000275.1:p.Arg267=
NM_001173454.1:c.915G>A	NP_001166925.1:p.Arg305=
NM_001173455.1:c.822G>A	NP_001166926.1:p.Arg274=
NM_001173456.1:c.708G>A	NP_001166927.1:p.Arg236=
XM_011545531.1:c.936G>A	XP_011543833.1:p.Arg312=
XM_011545532.1:c.843G>A	XP_011543834.1:p.Arg281=
XM_017029574.2:c.822G>A	XP_016885063.1:p.Arg274=
NM_000284.4:c.801G>A MANE Select	NP_000275.1:p.Arg267=
NM_001173454.2:c.915G>A	NP_001166925.1:p.Arg305=
NM_001173455.2:c.822G>A	NP_001166926.1:p.Arg274=
NM_001173456.2:c.708G>A	NP_001166927.1:p.Arg236=