Canonical Allele Identifier: CA412394815

Gene: PDHA1

Linked Data

• gnomAD v4: X-19355732-C-T
• MyVariant Identifiers: chrX:g.19373850C>T (hg19) ; chrX:g.19355732C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355732C>T , CM000685.2:g.19355732C>T	GRCh38
NC_000023.10:g.19373850C>T , CM000685.1:g.19373850C>T	GRCh37
NC_000023.9:g.19283771C>T	NCBI36
NG_016781.1:g.16840C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.827C>T	ENSP00000348062.6:p.Ala276Val
ENST00000379805.4:c.*498C>T	ENSP00000369133.3:n.*498C>T
ENST00000417819.6:c.890C>T	ENSP00000404616.2:p.Ala297Val
ENST00000423505.6:c.920C>T	ENSP00000406473.2:p.Ala307Val
ENST00000481733.2:n.601C>T
ENST00000696704.1:c.*138C>T	ENSP00000512823.1:n.*138C>T
ENST00000696705.1:c.*261C>T	ENSP00000512824.1:n.*261C>T
ENST00000422285.7:c.806C>T MANE Select	ENSP00000394382.2:p.Ala269Val
ENST00000379804.1:c.-38C>T	ENSP00000369132.1:n.-38C>T
ENST00000379806.9:c.920C>T	ENSP00000369134.5:p.Ala307Val
ENST00000422285.6:c.806C>T	ENSP00000394382.2:p.Ala269Val
ENST00000481733.1:n.234C>T
ENST00000540249.5:c.713C>T	ENSP00000440761.1:p.Ala238Val
ENST00000545074.5:c.827C>T	ENSP00000438550.1:p.Ala276Val
NM_000284.3:c.806C>T	NP_000275.1:p.Ala269Val
NM_001173454.1:c.920C>T	NP_001166925.1:p.Ala307Val
NM_001173455.1:c.827C>T	NP_001166926.1:p.Ala276Val
NM_001173456.1:c.713C>T	NP_001166927.1:p.Ala238Val
XM_011545531.1:c.941C>T	XP_011543833.1:p.Ala314Val
XM_011545532.1:c.848C>T	XP_011543834.1:p.Ala283Val
XM_017029574.2:c.827C>T	XP_016885063.1:p.Ala276Val
NM_000284.4:c.806C>T MANE Select	NP_000275.1:p.Ala269Val
NM_001173454.2:c.920C>T	NP_001166925.1:p.Ala307Val
NM_001173455.2:c.827C>T	NP_001166926.1:p.Ala276Val
NM_001173456.2:c.713C>T	NP_001166927.1:p.Ala238Val