Canonical Allele Identifier: CA412394516

Gene: PDHA1

Linked Data

• gnomAD v4: X-19355421-C-T
• MyVariant Identifiers: chrX:g.19373539C>T (hg19) ; chrX:g.19355421C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355421C>T , CM000685.2:g.19355421C>T	GRCh38
NC_000023.10:g.19373539C>T , CM000685.1:g.19373539C>T	GRCh37
NC_000023.9:g.19283460C>T	NCBI36
NG_016781.1:g.16529C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.697C>T	ENSP00000348062.6:p.Arg233Cys
ENST00000379805.4:c.*368C>T	ENSP00000369133.3:n.*368C>T
ENST00000417819.6:c.760C>T	ENSP00000404616.2:p.Arg254Cys
ENST00000423505.6:c.790C>T	ENSP00000406473.2:p.Arg264Cys
ENST00000481733.2:n.471C>T
ENST00000696704.1:c.*8C>T	ENSP00000512823.1:n.*8C>T
ENST00000696705.1:c.*131C>T	ENSP00000512824.1:n.*131C>T
ENST00000422285.7:c.676C>T MANE Select	ENSP00000394382.2:p.Arg226Cys
ENST00000379806.9:c.790C>T	ENSP00000369134.5:p.Arg264Cys
ENST00000422285.6:c.676C>T	ENSP00000394382.2:p.Arg226Cys
ENST00000479146.1:n.511C>T
ENST00000481733.1:n.104C>T
ENST00000540249.5:c.583C>T	ENSP00000440761.1:p.Arg195Cys
ENST00000545074.5:c.697C>T	ENSP00000438550.1:p.Arg233Cys
NM_000284.3:c.676C>T	NP_000275.1:p.Arg226Cys
NM_001173454.1:c.790C>T	NP_001166925.1:p.Arg264Cys
NM_001173455.1:c.697C>T	NP_001166926.1:p.Arg233Cys
NM_001173456.1:c.583C>T	NP_001166927.1:p.Arg195Cys
XM_011545531.1:c.811C>T	XP_011543833.1:p.Arg271Cys
XM_011545532.1:c.718C>T	XP_011543834.1:p.Arg240Cys
XM_017029574.2:c.697C>T	XP_016885063.1:p.Arg233Cys
NM_000284.4:c.676C>T MANE Select	NP_000275.1:p.Arg226Cys
NM_001173454.2:c.790C>T	NP_001166925.1:p.Arg264Cys
NM_001173455.2:c.697C>T	NP_001166926.1:p.Arg233Cys
NM_001173456.2:c.583C>T	NP_001166927.1:p.Arg195Cys