Canonical Allele Identifier: CA515486092

Gene: PDHA1

Linked Data

• gnomAD v4: X-19355712-C-A
• MyVariant Identifiers: chrX:g.19373830C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355712C>A , CM000685.2:g.19355712C>A	GRCh38
NC_000023.10:g.19373830C>A , CM000685.1:g.19373830C>A	GRCh37
NC_000023.9:g.19283751C>A	NCBI36
NG_016781.1:g.16820C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.807C>A	ENSP00000348062.6:p.Val269=
ENST00000379805.4:c.*478C>A	ENSP00000369133.3:n.*478C>A
ENST00000417819.6:c.870C>A	ENSP00000404616.2:p.Val290=
ENST00000423505.6:c.900C>A	ENSP00000406473.2:p.Val300=
ENST00000481733.2:n.581C>A
ENST00000696704.1:c.*118C>A	ENSP00000512823.1:n.*118C>A
ENST00000696705.1:c.*241C>A	ENSP00000512824.1:n.*241C>A
ENST00000422285.7:c.786C>A MANE Select	ENSP00000394382.2:p.Val262=
ENST00000379804.1:c.-58C>A	ENSP00000369132.1:n.-58C>A
ENST00000379806.9:c.900C>A	ENSP00000369134.5:p.Val300=
ENST00000422285.6:c.786C>A	ENSP00000394382.2:p.Val262=
ENST00000481733.1:n.214C>A
ENST00000540249.5:c.693C>A	ENSP00000440761.1:p.Val231=
ENST00000545074.5:c.807C>A	ENSP00000438550.1:p.Val269=
NM_000284.3:c.786C>A	NP_000275.1:p.Val262=
NM_001173454.1:c.900C>A	NP_001166925.1:p.Val300=
NM_001173455.1:c.807C>A	NP_001166926.1:p.Val269=
NM_001173456.1:c.693C>A	NP_001166927.1:p.Val231=
XM_011545531.1:c.921C>A	XP_011543833.1:p.Val307=
XM_011545532.1:c.828C>A	XP_011543834.1:p.Val276=
XM_017029574.2:c.807C>A	XP_016885063.1:p.Val269=
NM_000284.4:c.786C>A MANE Select	NP_000275.1:p.Val262=
NM_001173454.2:c.900C>A	NP_001166925.1:p.Val300=
NM_001173455.2:c.807C>A	NP_001166926.1:p.Val269=
NM_001173456.2:c.693C>A	NP_001166927.1:p.Val231=