Canonical Allele Identifier: CA412394363

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373495C>G (hg19) ; chrX:g.19355377C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355377C>G , CM000685.2:g.19355377C>G	GRCh38
NC_000023.10:g.19373495C>G , CM000685.1:g.19373495C>G	GRCh37
NC_000023.9:g.19283416C>G	NCBI36
NG_016781.1:g.16485C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.653C>G	ENSP00000348062.6:p.Ala218Gly
ENST00000379805.4:c.*324C>G	ENSP00000369133.3:n.*324C>G
ENST00000417819.6:c.716C>G	ENSP00000404616.2:p.Ala239Gly
ENST00000423505.6:c.746C>G	ENSP00000406473.2:p.Ala249Gly
ENST00000481733.2:n.427C>G
ENST00000696704.1:c.447C>G	ENSP00000512823.1:p.Gly149=
ENST00000696705.1:c.*87C>G	ENSP00000512824.1:n.*87C>G
ENST00000422285.7:c.632C>G MANE Select	ENSP00000394382.2:p.Ala211Gly
ENST00000379806.9:c.746C>G	ENSP00000369134.5:p.Ala249Gly
ENST00000422285.6:c.632C>G	ENSP00000394382.2:p.Ala211Gly
ENST00000479146.1:n.467C>G
ENST00000481733.1:n.60C>G
ENST00000540249.5:c.539C>G	ENSP00000440761.1:p.Ala180Gly
ENST00000545074.5:c.653C>G	ENSP00000438550.1:p.Ala218Gly
NM_000284.3:c.632C>G	NP_000275.1:p.Ala211Gly
NM_001173454.1:c.746C>G	NP_001166925.1:p.Ala249Gly
NM_001173455.1:c.653C>G	NP_001166926.1:p.Ala218Gly
NM_001173456.1:c.539C>G	NP_001166927.1:p.Ala180Gly
XM_011545531.1:c.767C>G	XP_011543833.1:p.Ala256Gly
XM_011545532.1:c.674C>G	XP_011543834.1:p.Ala225Gly
XM_017029574.2:c.653C>G	XP_016885063.1:p.Ala218Gly
NM_000284.4:c.632C>G MANE Select	NP_000275.1:p.Ala211Gly
NM_001173454.2:c.746C>G	NP_001166925.1:p.Ala249Gly
NM_001173455.2:c.653C>G	NP_001166926.1:p.Ala218Gly
NM_001173456.2:c.539C>G	NP_001166927.1:p.Ala180Gly