Canonical Allele Identifier: CA412394391

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1804022
• ClinVar RCV Id: RCV002468760
• MyVariant Identifiers: chrX:g.19373503T>G (hg19) ; chrX:g.19355385T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355385T>G , CM000685.2:g.19355385T>G	GRCh38
NC_000023.10:g.19373503T>G , CM000685.1:g.19373503T>G	GRCh37
NC_000023.9:g.19283424T>G	NCBI36
NG_016781.1:g.16493T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.661T>G	ENSP00000348062.6:p.Trp221Gly
ENST00000379805.4:c.*332T>G	ENSP00000369133.3:n.*332T>G
ENST00000417819.6:c.724T>G	ENSP00000404616.2:p.Trp242Gly
ENST00000423505.6:c.754T>G	ENSP00000406473.2:p.Trp252Gly
ENST00000481733.2:n.435T>G
ENST00000696704.1:c.455T>G	ENSP00000512823.1:p.Val152Gly
ENST00000696705.1:c.*95T>G	ENSP00000512824.1:n.*95T>G
ENST00000422285.7:c.640T>G MANE Select	ENSP00000394382.2:p.Trp214Gly
ENST00000379806.9:c.754T>G	ENSP00000369134.5:p.Trp252Gly
ENST00000422285.6:c.640T>G	ENSP00000394382.2:p.Trp214Gly
ENST00000479146.1:n.475T>G
ENST00000481733.1:n.68T>G
ENST00000540249.5:c.547T>G	ENSP00000440761.1:p.Trp183Gly
ENST00000545074.5:c.661T>G	ENSP00000438550.1:p.Trp221Gly
NM_000284.3:c.640T>G	NP_000275.1:p.Trp214Gly
NM_001173454.1:c.754T>G	NP_001166925.1:p.Trp252Gly
NM_001173455.1:c.661T>G	NP_001166926.1:p.Trp221Gly
NM_001173456.1:c.547T>G	NP_001166927.1:p.Trp183Gly
XM_011545531.1:c.775T>G	XP_011543833.1:p.Trp259Gly
XM_011545532.1:c.682T>G	XP_011543834.1:p.Trp228Gly
XM_017029574.2:c.661T>G	XP_016885063.1:p.Trp221Gly
NM_000284.4:c.640T>G MANE Select	NP_000275.1:p.Trp214Gly
NM_001173454.2:c.754T>G	NP_001166925.1:p.Trp252Gly
NM_001173455.2:c.661T>G	NP_001166926.1:p.Trp221Gly
NM_001173456.2:c.547T>G	NP_001166927.1:p.Trp183Gly