Canonical Allele Identifier: CA412394489

Gene: PDHA1

Linked Data

• gnomAD v4: X-19355411-T-G
• MyVariant Identifiers: chrX:g.19373529T>G (hg19) ; chrX:g.19355411T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355411T>G , CM000685.2:g.19355411T>G	GRCh38
NC_000023.10:g.19373529T>G , CM000685.1:g.19373529T>G	GRCh37
NC_000023.9:g.19283450T>G	NCBI36
NG_016781.1:g.16519T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.687T>G	ENSP00000348062.6:p.Cys229Trp
ENST00000379805.4:c.*358T>G	ENSP00000369133.3:n.*358T>G
ENST00000417819.6:c.750T>G	ENSP00000404616.2:p.Cys250Trp
ENST00000423505.6:c.780T>G	ENSP00000406473.2:p.Cys260Trp
ENST00000481733.2:n.461T>G
ENST00000696704.1:c.481T>G	ENSP00000512823.1:p.Ter161Gly
ENST00000696705.1:c.*121T>G	ENSP00000512824.1:n.*121T>G
ENST00000422285.7:c.666T>G MANE Select	ENSP00000394382.2:p.Cys222Trp
ENST00000379806.9:c.780T>G	ENSP00000369134.5:p.Cys260Trp
ENST00000422285.6:c.666T>G	ENSP00000394382.2:p.Cys222Trp
ENST00000479146.1:n.501T>G
ENST00000481733.1:n.94T>G
ENST00000540249.5:c.573T>G	ENSP00000440761.1:p.Cys191Trp
ENST00000545074.5:c.687T>G	ENSP00000438550.1:p.Cys229Trp
NM_000284.3:c.666T>G	NP_000275.1:p.Cys222Trp
NM_001173454.1:c.780T>G	NP_001166925.1:p.Cys260Trp
NM_001173455.1:c.687T>G	NP_001166926.1:p.Cys229Trp
NM_001173456.1:c.573T>G	NP_001166927.1:p.Cys191Trp
XM_011545531.1:c.801T>G	XP_011543833.1:p.Cys267Trp
XM_011545532.1:c.708T>G	XP_011543834.1:p.Cys236Trp
XM_017029574.2:c.687T>G	XP_016885063.1:p.Cys229Trp
NM_000284.4:c.666T>G MANE Select	NP_000275.1:p.Cys222Trp
NM_001173454.2:c.780T>G	NP_001166925.1:p.Cys260Trp
NM_001173455.2:c.687T>G	NP_001166926.1:p.Cys229Trp
NM_001173456.2:c.573T>G	NP_001166927.1:p.Cys191Trp