Canonical Allele Identifier: CA640522226

Gene: PDHA1

Linked Data

• dbSNP Id: rs1454223989
• gnomAD v2: X-19375452-G-GAT
• gnomAD v3: X-19357334-G-GAT
• gnomAD v4: X-19357334-G-GAT
• MyVariant Identifiers: chrX:g.19375452_19375453insAT (hg19) ; chrX:g.19357334_19357335insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357334_19357335insAT , CM000685.2:g.19357334_19357335insAT	GRCh38
NC_000023.10:g.19375452_19375453insAT , CM000685.1:g.19375452_19375453insAT	GRCh37
NC_000023.9:g.19285373_19285374insAT	NCBI36
NG_016781.1:g.18442_18443insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-318_853-317insAT	ENSP00000348062.6:n.853-318_853-317insAT
ENST00000379805.4:c.*524-318_*524-317insAT	ENSP00000369133.3:n.*524-318_*524-317insAT
ENST00000417819.6:c.916-318_916-317insAT	ENSP00000404616.2:n.916-318_916-317insAT
ENST00000423505.6:c.946-318_946-317insAT	ENSP00000406473.2:n.946-318_946-317insAT
ENST00000481733.2:n.627-318_627-317insAT
ENST00000696704.1:c.*164-318_*164-317insAT	ENSP00000512823.1:n.*164-318_*164-317insAT
ENST00000696705.1:c.*287-318_*287-317insAT	ENSP00000512824.1:n.*287-318_*287-317insAT
ENST00000422285.7:c.832-318_832-317insAT MANE Select	ENSP00000394382.2:n.832-318_832-317insAT
ENST00000379804.1:c.-12-318_-12-317insAT	ENSP00000369132.1:n.-12-318_-12-317insAT
ENST00000379806.9:c.946-318_946-317insAT	ENSP00000369134.5:n.946-318_946-317insAT
ENST00000422285.6:c.832-318_832-317insAT	ENSP00000394382.2:n.832-318_832-317insAT
ENST00000481733.1:n.260-318_260-317insAT
ENST00000540249.5:c.739-318_739-317insAT	ENSP00000440761.1:n.739-318_739-317insAT
ENST00000545074.5:c.853-318_853-317insAT	ENSP00000438550.1:n.853-318_853-317insAT
NM_000284.3:c.832-318_832-317insAT	NP_000275.1:n.832-318_832-317insAT
NM_001173454.1:c.946-318_946-317insAT	NP_001166925.1:n.946-318_946-317insAT
NM_001173455.1:c.853-318_853-317insAT	NP_001166926.1:n.853-318_853-317insAT
NM_001173456.1:c.739-318_739-317insAT	NP_001166927.1:n.739-318_739-317insAT
XM_011545531.1:c.967-318_967-317insAT	XP_011543833.1:n.967-318_967-317insAT
XM_011545532.1:c.874-318_874-317insAT	XP_011543834.1:n.874-318_874-317insAT
XM_017029574.2:c.853-318_853-317insAT	XP_016885063.1:n.853-318_853-317insAT
NM_000284.4:c.832-318_832-317insAT MANE Select	NP_000275.1:n.832-318_832-317insAT
NM_001173454.2:c.946-318_946-317insAT	NP_001166925.1:n.946-318_946-317insAT
NM_001173455.2:c.853-318_853-317insAT	NP_001166926.1:n.853-318_853-317insAT
NM_001173456.2:c.739-318_739-317insAT	NP_001166927.1:n.739-318_739-317insAT