Canonical Allele Identifier: CA873743350

Gene: PDHA1

Linked Data

• dbSNP Id: rs1384426074
• gnomAD v4: X-19359901-A-AAAAGGAAGAACAATTCCTTGTATGCCT
• MyVariant Identifiers: chrX:g.19378019_19378020insAAAGGAAGAACAATTCCTTGTATGCCT (hg19) ; chrX:g.19359901_19359902insAAAGGAAGAACAATTCCTTGTATGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359902_19359928dup , CM000685.2:g.19359902_19359928dup	GRCh38
NC_000023.10:g.19378020_19378046dup , CM000685.1:g.19378020_19378046dup	GRCh37
NC_000023.9:g.19287941_19287967dup	NCBI36
NG_016781.1:g.21010_21036dup
NG_021184.1:g.160334_160360dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*249_*275dup	ENSP00000348062.6:n.*249_*275dup
ENST00000423505.6:c.*249_*275dup	ENSP00000406473.2:n.*249_*275dup
ENST00000696704.1:c.*754_*780dup	ENSP00000512823.1:n.*754_*780dup
ENST00000696705.1:c.*877_*903dup	ENSP00000512824.1:n.*877_*903dup
ENST00000422285.7:c.*249_*275dup MANE Select	ENSP00000394382.2:n.*249_*275dup
ENST00000379806.9:c.*249_*275dup	ENSP00000369134.5:n.*249_*275dup
ENST00000422285.6:c.*249_*275dup	ENSP00000394382.2:n.*249_*275dup
ENST00000540249.5:c.*249_*275dup	ENSP00000440761.1:n.*249_*275dup
ENST00000545074.5:c.*249_*275dup	ENSP00000438550.1:n.*249_*275dup
NM_000284.3:c.*249_*275dup	NP_000275.1:n.*249_*275dup
NM_001173454.1:c.*249_*275dup	NP_001166925.1:n.*249_*275dup
NM_001173455.1:c.*249_*275dup	NP_001166926.1:n.*249_*275dup
NM_001173456.1:c.*249_*275dup	NP_001166927.1:n.*249_*275dup
XM_011545531.1:c.*249_*275dup	XP_011543833.1:n.*249_*275dup
XM_011545532.1:c.*249_*275dup	XP_011543834.1:n.*249_*275dup
NM_000284.4:c.*249_*275dup MANE Select	NP_000275.1:n.*249_*275dup
NM_001173454.2:c.*249_*275dup	NP_001166925.1:n.*249_*275dup
NM_001173455.2:c.*249_*275dup	NP_001166926.1:n.*249_*275dup
NM_001173456.2:c.*249_*275dup	NP_001166927.1:n.*249_*275dup