Canonical Allele Identifier: CA16608806

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 381820
• ClinVar RCV Id: RCV000422060 ; RCV002521589
• dbSNP Id: rs1057521179
• gnomAD v4: X-19357681-C-T
• MyVariant Identifiers: chrX:g.19375799C>T (hg19) ; chrX:g.19357681C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357681C>T , CM000685.2:g.19357681C>T	GRCh38
NC_000023.10:g.19375799C>T , CM000685.1:g.19375799C>T	GRCh37
NC_000023.9:g.19285720C>T	NCBI36
NG_016781.1:g.18789C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.882C>T	ENSP00000348062.6:p.Tyr294=
ENST00000379805.4:c.*553C>T	ENSP00000369133.3:n.*553C>T
ENST00000417819.6:c.945C>T	ENSP00000404616.2:p.Tyr315=
ENST00000423505.6:c.975C>T	ENSP00000406473.2:p.Tyr325=
ENST00000481733.2:n.656C>T
ENST00000696704.1:c.*193C>T	ENSP00000512823.1:n.*193C>T
ENST00000696705.1:c.*316C>T	ENSP00000512824.1:n.*316C>T
ENST00000422285.7:c.861C>T MANE Select	ENSP00000394382.2:p.Tyr287=
ENST00000379804.1:c.18C>T	ENSP00000369132.1:p.Tyr6=
ENST00000379806.9:c.975C>T	ENSP00000369134.5:p.Tyr325=
ENST00000422285.6:c.861C>T	ENSP00000394382.2:p.Tyr287=
ENST00000478795.1:n.300C>T
ENST00000481733.1:n.289C>T
ENST00000540249.5:c.768C>T	ENSP00000440761.1:p.Tyr256=
ENST00000545074.5:c.882C>T	ENSP00000438550.1:p.Tyr294=
NM_000284.3:c.861C>T	NP_000275.1:p.Tyr287=
NM_001173454.1:c.975C>T	NP_001166925.1:p.Tyr325=
NM_001173455.1:c.882C>T	NP_001166926.1:p.Tyr294=
NM_001173456.1:c.768C>T	NP_001166927.1:p.Tyr256=
XM_011545531.1:c.996C>T	XP_011543833.1:p.Tyr332=
XM_011545532.1:c.903C>T	XP_011543834.1:p.Tyr301=
XM_017029574.2:c.882C>T	XP_016885063.1:p.Tyr294=
NM_000284.4:c.861C>T MANE Select	NP_000275.1:p.Tyr287=
NM_001173454.2:c.975C>T	NP_001166925.1:p.Tyr325=
NM_001173455.2:c.882C>T	NP_001166926.1:p.Tyr294=
NM_001173456.2:c.768C>T	NP_001166927.1:p.Tyr256=