Canonical Allele Identifier: CA412394518

Gene: PDHA1

Linked Data

• gnomAD v4: X-19355422-G-A
• COSMIC: COSM5064584 ; COSM5064585 ; COSM5064586
• MyVariant Identifiers: chrX:g.19373540G>A (hg19) ; chrX:g.19355422G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355422G>A , CM000685.2:g.19355422G>A	GRCh38
NC_000023.10:g.19373540G>A , CM000685.1:g.19373540G>A	GRCh37
NC_000023.9:g.19283461G>A	NCBI36
NG_016781.1:g.16530G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.698G>A	ENSP00000348062.6:p.Arg233His
ENST00000379805.4:c.*369G>A	ENSP00000369133.3:n.*369G>A
ENST00000417819.6:c.761G>A	ENSP00000404616.2:p.Arg254His
ENST00000423505.6:c.791G>A	ENSP00000406473.2:p.Arg264His
ENST00000481733.2:n.472G>A
ENST00000696704.1:c.*9G>A	ENSP00000512823.1:n.*9G>A
ENST00000696705.1:c.*132G>A	ENSP00000512824.1:n.*132G>A
ENST00000422285.7:c.677G>A MANE Select	ENSP00000394382.2:p.Arg226His
ENST00000379806.9:c.791G>A	ENSP00000369134.5:p.Arg264His
ENST00000422285.6:c.677G>A	ENSP00000394382.2:p.Arg226His
ENST00000479146.1:n.512G>A
ENST00000481733.1:n.105G>A
ENST00000540249.5:c.584G>A	ENSP00000440761.1:p.Arg195His
ENST00000545074.5:c.698G>A	ENSP00000438550.1:p.Arg233His
NM_000284.3:c.677G>A	NP_000275.1:p.Arg226His
NM_001173454.1:c.791G>A	NP_001166925.1:p.Arg264His
NM_001173455.1:c.698G>A	NP_001166926.1:p.Arg233His
NM_001173456.1:c.584G>A	NP_001166927.1:p.Arg195His
XM_011545531.1:c.812G>A	XP_011543833.1:p.Arg271His
XM_011545532.1:c.719G>A	XP_011543834.1:p.Arg240His
XM_017029574.2:c.698G>A	XP_016885063.1:p.Arg233His
NM_000284.4:c.677G>A MANE Select	NP_000275.1:p.Arg226His
NM_001173454.2:c.791G>A	NP_001166925.1:p.Arg264His
NM_001173455.2:c.698G>A	NP_001166926.1:p.Arg233His
NM_001173456.2:c.584G>A	NP_001166927.1:p.Arg195His