Canonical Allele Identifier: CA640522236

Gene: PDHA1

Linked Data

• dbSNP Id: rs1283059131
• gnomAD v2: X-19375567-TGAGA-T
• gnomAD v3: X-19357449-TGAGA-T
• gnomAD v4: X-19357449-TGAGA-T
• MyVariant Identifiers: chrX:g.19375568_19375571del (hg19) ; chrX:g.19357450_19357453del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357450_19357453del , CM000685.2:g.19357450_19357453del	GRCh38
NC_000023.10:g.19375568_19375571del , CM000685.1:g.19375568_19375571del	GRCh37
NC_000023.9:g.19285489_19285492del	NCBI36
NG_016781.1:g.18558_18561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-202_853-199del	ENSP00000348062.6:n.853-202_853-199del
ENST00000379805.4:c.*524-202_*524-199del	ENSP00000369133.3:n.*524-202_*524-199del
ENST00000417819.6:c.916-202_916-199del	ENSP00000404616.2:n.916-202_916-199del
ENST00000423505.6:c.946-202_946-199del	ENSP00000406473.2:n.946-202_946-199del
ENST00000481733.2:n.627-202_627-199del
ENST00000696704.1:c.*164-202_*164-199del	ENSP00000512823.1:n.*164-202_*164-199del
ENST00000696705.1:c.*287-202_*287-199del	ENSP00000512824.1:n.*287-202_*287-199del
ENST00000422285.7:c.832-202_832-199del MANE Select	ENSP00000394382.2:n.832-202_832-199del
ENST00000379804.1:c.-12-202_-12-199del	ENSP00000369132.1:n.-12-202_-12-199del
ENST00000379806.9:c.946-202_946-199del	ENSP00000369134.5:n.946-202_946-199del
ENST00000422285.6:c.832-202_832-199del	ENSP00000394382.2:n.832-202_832-199del
ENST00000478795.1:n.69_72del
ENST00000481733.1:n.260-202_260-199del
ENST00000540249.5:c.739-202_739-199del	ENSP00000440761.1:n.739-202_739-199del
ENST00000545074.5:c.853-202_853-199del	ENSP00000438550.1:n.853-202_853-199del
NM_000284.3:c.832-202_832-199del	NP_000275.1:n.832-202_832-199del
NM_001173454.1:c.946-202_946-199del	NP_001166925.1:n.946-202_946-199del
NM_001173455.1:c.853-202_853-199del	NP_001166926.1:n.853-202_853-199del
NM_001173456.1:c.739-202_739-199del	NP_001166927.1:n.739-202_739-199del
XM_011545531.1:c.967-202_967-199del	XP_011543833.1:n.967-202_967-199del
XM_011545532.1:c.874-202_874-199del	XP_011543834.1:n.874-202_874-199del
XM_017029574.2:c.853-202_853-199del	XP_016885063.1:n.853-202_853-199del
NM_000284.4:c.832-202_832-199del MANE Select	NP_000275.1:n.832-202_832-199del
NM_001173454.2:c.946-202_946-199del	NP_001166925.1:n.946-202_946-199del
NM_001173455.2:c.853-202_853-199del	NP_001166926.1:n.853-202_853-199del
NM_001173456.2:c.739-202_739-199del	NP_001166927.1:n.739-202_739-199del