Canonical Allele Identifier: CA10363127

Gene: PDHA1

Linked Data

• dbSNP Id: rs759125297
• ExAC: X:19375735 C / CCTAA
• gnomAD v2: X-19375735-C-CCTAA
• gnomAD v3: X-19357617-C-CCTAA
• gnomAD v4: X-19357617-C-CCTAA
• MyVariant Identifiers: chrX:g.19375739_19375740insCTAA (hg19) ; chrX:g.19375735_19375736insCTAA (hg19) ; chrX:g.19357621_19357622insCTAA (hg38) ; chrX:g.19357617_19357618insCTAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357628_19357631dup , CM000685.2:g.19357628_19357631dup	GRCh38
NC_000023.10:g.19375746_19375749dup , CM000685.1:g.19375746_19375749dup	GRCh37
NC_000023.9:g.19285667_19285670dup	NCBI36
NG_016781.1:g.18736_18739dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-24_853-21dup	ENSP00000348062.6:n.853-24_853-21dup
ENST00000379805.4:c.*524-24_*524-21dup	ENSP00000369133.3:n.*524-24_*524-21dup
ENST00000417819.6:c.916-24_916-21dup	ENSP00000404616.2:n.916-24_916-21dup
ENST00000423505.6:c.946-24_946-21dup	ENSP00000406473.2:n.946-24_946-21dup
ENST00000481733.2:n.627-24_627-21dup
ENST00000696704.1:c.*164-24_*164-21dup	ENSP00000512823.1:n.*164-24_*164-21dup
ENST00000696705.1:c.*287-24_*287-21dup	ENSP00000512824.1:n.*287-24_*287-21dup
ENST00000422285.7:c.832-24_832-21dup MANE Select	ENSP00000394382.2:n.832-24_832-21dup
ENST00000379804.1:c.-12-24_-12-21dup	ENSP00000369132.1:n.-12-24_-12-21dup
ENST00000379806.9:c.946-24_946-21dup	ENSP00000369134.5:n.946-24_946-21dup
ENST00000422285.6:c.832-24_832-21dup	ENSP00000394382.2:n.832-24_832-21dup
ENST00000478795.1:n.247_250dup
ENST00000481733.1:n.260-24_260-21dup
ENST00000540249.5:c.739-24_739-21dup	ENSP00000440761.1:n.739-24_739-21dup
ENST00000545074.5:c.853-24_853-21dup	ENSP00000438550.1:n.853-24_853-21dup
NM_000284.3:c.832-24_832-21dup	NP_000275.1:n.832-24_832-21dup
NM_001173454.1:c.946-24_946-21dup	NP_001166925.1:n.946-24_946-21dup
NM_001173455.1:c.853-24_853-21dup	NP_001166926.1:n.853-24_853-21dup
NM_001173456.1:c.739-24_739-21dup	NP_001166927.1:n.739-24_739-21dup
XM_011545531.1:c.967-24_967-21dup	XP_011543833.1:n.967-24_967-21dup
XM_011545532.1:c.874-24_874-21dup	XP_011543834.1:n.874-24_874-21dup
XM_017029574.2:c.853-24_853-21dup	XP_016885063.1:n.853-24_853-21dup
NM_000284.4:c.832-24_832-21dup MANE Select	NP_000275.1:n.832-24_832-21dup
NM_001173454.2:c.946-24_946-21dup	NP_001166925.1:n.946-24_946-21dup
NM_001173455.2:c.853-24_853-21dup	NP_001166926.1:n.853-24_853-21dup
NM_001173456.2:c.739-24_739-21dup	NP_001166927.1:n.739-24_739-21dup