Canonical Allele Identifier: CA873741637

Gene: PDHA1

Linked Data

• dbSNP Id: rs1372143787
• gnomAD v3: X-19358726-T-TTTGAAAGTATAACAACAACTCTGCC
• gnomAD v4: X-19358726-T-TTTGAAAGTATAACAACAACTCTGCC
• MyVariant Identifiers: chrX:g.19376844_19376845insTTGAAAGTATAACAACAACTCTGCC (hg19) ; chrX:g.19358726_19358727insTTGAAAGTATAACAACAACTCTGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358727_19358751dup , CM000685.2:g.19358727_19358751dup	GRCh38
NC_000023.10:g.19376845_19376869dup , CM000685.1:g.19376845_19376869dup	GRCh37
NC_000023.9:g.19286766_19286790dup	NCBI36
NG_016781.1:g.19835_19859dup
NG_021184.1:g.161511_161535dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.921-189_921-165dup	ENSP00000348062.6:n.921-189_921-165dup
ENST00000379805.4:c.*592-189_*592-165dup	ENSP00000369133.3:n.*592-189_*592-165dup
ENST00000417819.6:c.984-189_984-165dup	ENSP00000404616.2:n.984-189_984-165dup
ENST00000423505.6:c.1014-189_1014-165dup	ENSP00000406473.2:n.1014-189_1014-165dup
ENST00000481733.2:n.695-189_695-165dup
ENST00000696704.1:c.*232-189_*232-165dup	ENSP00000512823.1:n.*232-189_*232-165dup
ENST00000696705.1:c.*355-189_*355-165dup	ENSP00000512824.1:n.*355-189_*355-165dup
ENST00000422285.7:c.900-189_900-165dup MANE Select	ENSP00000394382.2:n.900-189_900-165dup
ENST00000379804.1:c.57-189_57-165dup	ENSP00000369132.1:n.57-189_57-165dup
ENST00000379806.9:c.1014-189_1014-165dup	ENSP00000369134.5:n.1014-189_1014-165dup
ENST00000422285.6:c.900-189_900-165dup	ENSP00000394382.2:n.900-189_900-165dup
ENST00000478795.1:n.339-189_339-165dup
ENST00000481733.1:n.328-189_328-165dup
ENST00000540249.5:c.807-189_807-165dup	ENSP00000440761.1:n.807-189_807-165dup
ENST00000545074.5:c.921-189_921-165dup	ENSP00000438550.1:n.921-189_921-165dup
NM_000284.3:c.900-189_900-165dup	NP_000275.1:n.900-189_900-165dup
NM_001173454.1:c.1014-189_1014-165dup	NP_001166925.1:n.1014-189_1014-165dup
NM_001173455.1:c.921-189_921-165dup	NP_001166926.1:n.921-189_921-165dup
NM_001173456.1:c.807-189_807-165dup	NP_001166927.1:n.807-189_807-165dup
XM_011545531.1:c.1035-189_1035-165dup	XP_011543833.1:n.1035-189_1035-165dup
XM_011545532.1:c.942-189_942-165dup	XP_011543834.1:n.942-189_942-165dup
XM_017029574.2:c.921-189_921-165dup	XP_016885063.1:n.921-189_921-165dup
NM_000284.4:c.900-189_900-165dup MANE Select	NP_000275.1:n.900-189_900-165dup
NM_001173454.2:c.1014-189_1014-165dup	NP_001166925.1:n.1014-189_1014-165dup
NM_001173455.2:c.921-189_921-165dup	NP_001166926.1:n.921-189_921-165dup
NM_001173456.2:c.807-189_807-165dup	NP_001166927.1:n.807-189_807-165dup