Canonical Allele Identifier: CA412395142

Gene: PDHA1

Linked Data

• gnomAD v4: X-19357656-C-A
• MyVariant Identifiers: chrX:g.19375774C>A (hg19) ; chrX:g.19357656C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357656C>A , CM000685.2:g.19357656C>A	GRCh38
NC_000023.10:g.19375774C>A , CM000685.1:g.19375774C>A	GRCh37
NC_000023.9:g.19285695C>A	NCBI36
NG_016781.1:g.18764C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.857C>A	ENSP00000348062.6:p.Pro286His
ENST00000379805.4:c.*528C>A	ENSP00000369133.3:n.*528C>A
ENST00000417819.6:c.920C>A	ENSP00000404616.2:p.Pro307His
ENST00000423505.6:c.950C>A	ENSP00000406473.2:p.Pro317His
ENST00000481733.2:n.631C>A
ENST00000696704.1:c.*168C>A	ENSP00000512823.1:n.*168C>A
ENST00000696705.1:c.*291C>A	ENSP00000512824.1:n.*291C>A
ENST00000422285.7:c.836C>A MANE Select	ENSP00000394382.2:p.Pro279His
ENST00000379804.1:c.-8C>A	ENSP00000369132.1:n.-8C>A
ENST00000379806.9:c.950C>A	ENSP00000369134.5:p.Pro317His
ENST00000422285.6:c.836C>A	ENSP00000394382.2:p.Pro279His
ENST00000478795.1:n.275C>A
ENST00000481733.1:n.264C>A
ENST00000540249.5:c.743C>A	ENSP00000440761.1:p.Pro248His
ENST00000545074.5:c.857C>A	ENSP00000438550.1:p.Pro286His
NM_000284.3:c.836C>A	NP_000275.1:p.Pro279His
NM_001173454.1:c.950C>A	NP_001166925.1:p.Pro317His
NM_001173455.1:c.857C>A	NP_001166926.1:p.Pro286His
NM_001173456.1:c.743C>A	NP_001166927.1:p.Pro248His
XM_011545531.1:c.971C>A	XP_011543833.1:p.Pro324His
XM_011545532.1:c.878C>A	XP_011543834.1:p.Pro293His
XM_017029574.2:c.857C>A	XP_016885063.1:p.Pro286His
NM_000284.4:c.836C>A MANE Select	NP_000275.1:p.Pro279His
NM_001173454.2:c.950C>A	NP_001166925.1:p.Pro317His
NM_001173455.2:c.857C>A	NP_001166926.1:p.Pro286His
NM_001173456.2:c.743C>A	NP_001166927.1:p.Pro248His