Canonical Allele Identifier: CA515486082

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373812A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355694A>G , CM000685.2:g.19355694A>G	GRCh38
NC_000023.10:g.19373812A>G , CM000685.1:g.19373812A>G	GRCh37
NC_000023.9:g.19283733A>G	NCBI36
NG_016781.1:g.16802A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.789A>G	ENSP00000348062.6:p.Gly263=
ENST00000379805.4:c.*460A>G	ENSP00000369133.3:n.*460A>G
ENST00000417819.6:c.852A>G	ENSP00000404616.2:p.Gly284=
ENST00000423505.6:c.882A>G	ENSP00000406473.2:p.Gly294=
ENST00000481733.2:n.563A>G
ENST00000696704.1:c.*100A>G	ENSP00000512823.1:n.*100A>G
ENST00000696705.1:c.*223A>G	ENSP00000512824.1:n.*223A>G
ENST00000422285.7:c.768A>G MANE Select	ENSP00000394382.2:p.Gly256=
ENST00000379804.1:c.-76A>G	ENSP00000369132.1:n.-76A>G
ENST00000379806.9:c.882A>G	ENSP00000369134.5:p.Gly294=
ENST00000422285.6:c.768A>G	ENSP00000394382.2:p.Gly256=
ENST00000481733.1:n.196A>G
ENST00000540249.5:c.675A>G	ENSP00000440761.1:p.Gly225=
ENST00000545074.5:c.789A>G	ENSP00000438550.1:p.Gly263=
NM_000284.3:c.768A>G	NP_000275.1:p.Gly256=
NM_001173454.1:c.882A>G	NP_001166925.1:p.Gly294=
NM_001173455.1:c.789A>G	NP_001166926.1:p.Gly263=
NM_001173456.1:c.675A>G	NP_001166927.1:p.Gly225=
XM_011545531.1:c.903A>G	XP_011543833.1:p.Gly301=
XM_011545532.1:c.810A>G	XP_011543834.1:p.Gly270=
XM_017029574.2:c.789A>G	XP_016885063.1:p.Gly263=
NM_000284.4:c.768A>G MANE Select	NP_000275.1:p.Gly256=
NM_001173454.2:c.882A>G	NP_001166925.1:p.Gly294=
NM_001173455.2:c.789A>G	NP_001166926.1:p.Gly263=
NM_001173456.2:c.675A>G	NP_001166927.1:p.Gly225=