Canonical Allele Identifier: CA412395131

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 522146
• ClinVar RCV Id: RCV000622952
• dbSNP Id: rs1555934843
• gnomAD v4: X-19357651-G-A
• MyVariant Identifiers: chrX:g.19375769G>A (hg19) ; chrX:g.19357651G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357651G>A , CM000685.2:g.19357651G>A	GRCh38
NC_000023.10:g.19375769G>A , CM000685.1:g.19375769G>A	GRCh37
NC_000023.9:g.19285690G>A	NCBI36
NG_016781.1:g.18759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-1G>A	ENSP00000348062.6:n.853-1G>A
ENST00000379805.4:c.*524-1G>A	ENSP00000369133.3:n.*524-1G>A
ENST00000417819.6:c.916-1G>A	ENSP00000404616.2:n.916-1G>A
ENST00000423505.6:c.946-1G>A	ENSP00000406473.2:n.946-1G>A
ENST00000481733.2:n.627-1G>A
ENST00000696704.1:c.*164-1G>A	ENSP00000512823.1:n.*164-1G>A
ENST00000696705.1:c.*287-1G>A	ENSP00000512824.1:n.*287-1G>A
ENST00000422285.7:c.832-1G>A MANE Select	ENSP00000394382.2:n.832-1G>A
ENST00000379804.1:c.-12-1G>A	ENSP00000369132.1:n.-12-1G>A
ENST00000379806.9:c.946-1G>A	ENSP00000369134.5:n.946-1G>A
ENST00000422285.6:c.832-1G>A	ENSP00000394382.2:n.832-1G>A
ENST00000478795.1:n.270G>A
ENST00000481733.1:n.260-1G>A
ENST00000540249.5:c.739-1G>A	ENSP00000440761.1:n.739-1G>A
ENST00000545074.5:c.853-1G>A	ENSP00000438550.1:n.853-1G>A
NM_000284.3:c.832-1G>A	NP_000275.1:n.832-1G>A
NM_001173454.1:c.946-1G>A	NP_001166925.1:n.946-1G>A
NM_001173455.1:c.853-1G>A	NP_001166926.1:n.853-1G>A
NM_001173456.1:c.739-1G>A	NP_001166927.1:n.739-1G>A
XM_011545531.1:c.967-1G>A	XP_011543833.1:n.967-1G>A
XM_011545532.1:c.874-1G>A	XP_011543834.1:n.874-1G>A
XM_017029574.2:c.853-1G>A	XP_016885063.1:n.853-1G>A
NM_000284.4:c.832-1G>A MANE Select	NP_000275.1:n.832-1G>A
NM_001173454.2:c.946-1G>A	NP_001166925.1:n.946-1G>A
NM_001173455.2:c.853-1G>A	NP_001166926.1:n.853-1G>A
NM_001173456.2:c.739-1G>A	NP_001166927.1:n.739-1G>A