Canonical Allele Identifier: CA640522222

Gene: PDHA1

Linked Data

• dbSNP Id: rs1241861359
• gnomAD v2: X-19375433-C-T
• gnomAD v3: X-19357315-C-T
• gnomAD v4: X-19357315-C-T
• MyVariant Identifiers: chrX:g.19375433C>T (hg19) ; chrX:g.19357315C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357315C>T , CM000685.2:g.19357315C>T	GRCh38
NC_000023.10:g.19375433C>T , CM000685.1:g.19375433C>T	GRCh37
NC_000023.9:g.19285354C>T	NCBI36
NG_016781.1:g.18423C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-337C>T	ENSP00000348062.6:n.853-337C>T
ENST00000379805.4:c.*524-337C>T	ENSP00000369133.3:n.*524-337C>T
ENST00000417819.6:c.916-337C>T	ENSP00000404616.2:n.916-337C>T
ENST00000423505.6:c.946-337C>T	ENSP00000406473.2:n.946-337C>T
ENST00000481733.2:n.627-337C>T
ENST00000696704.1:c.*164-337C>T	ENSP00000512823.1:n.*164-337C>T
ENST00000696705.1:c.*287-337C>T	ENSP00000512824.1:n.*287-337C>T
ENST00000422285.7:c.832-337C>T MANE Select	ENSP00000394382.2:n.832-337C>T
ENST00000379804.1:c.-12-337C>T	ENSP00000369132.1:n.-12-337C>T
ENST00000379806.9:c.946-337C>T	ENSP00000369134.5:n.946-337C>T
ENST00000422285.6:c.832-337C>T	ENSP00000394382.2:n.832-337C>T
ENST00000481733.1:n.260-337C>T
ENST00000540249.5:c.739-337C>T	ENSP00000440761.1:n.739-337C>T
ENST00000545074.5:c.853-337C>T	ENSP00000438550.1:n.853-337C>T
NM_000284.3:c.832-337C>T	NP_000275.1:n.832-337C>T
NM_001173454.1:c.946-337C>T	NP_001166925.1:n.946-337C>T
NM_001173455.1:c.853-337C>T	NP_001166926.1:n.853-337C>T
NM_001173456.1:c.739-337C>T	NP_001166927.1:n.739-337C>T
XM_011545531.1:c.967-337C>T	XP_011543833.1:n.967-337C>T
XM_011545532.1:c.874-337C>T	XP_011543834.1:n.874-337C>T
XM_017029574.2:c.853-337C>T	XP_016885063.1:n.853-337C>T
NM_000284.4:c.832-337C>T MANE Select	NP_000275.1:n.832-337C>T
NM_001173454.2:c.946-337C>T	NP_001166925.1:n.946-337C>T
NM_001173455.2:c.853-337C>T	NP_001166926.1:n.853-337C>T
NM_001173456.2:c.739-337C>T	NP_001166927.1:n.739-337C>T