Canonical Allele Identifier: CA640522692

Gene: PDHA1

Linked Data

• dbSNP Id: rs1204846207
• gnomAD v2: X-19377885-C-CATTAAGTGTGTAGATTGAGCAGGTAGT
• gnomAD v4: X-19359767-C-CATTAAGTGTGTAGATTGAGCAGGTAGT
• MyVariant Identifiers: chrX:g.19377885_19377886insATTAAGTGTGTAGATTGAGCAGGTAGT (hg19) ; chrX:g.19359767_19359768insATTAAGTGTGTAGATTGAGCAGGTAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359769_19359795dup , CM000685.2:g.19359769_19359795dup	GRCh38
NC_000023.10:g.19377887_19377913dup , CM000685.1:g.19377887_19377913dup	GRCh37
NC_000023.9:g.19287808_19287834dup	NCBI36
NG_016781.1:g.20877_20903dup
NG_021184.1:g.160468_160494dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*116_*142dup	ENSP00000348062.6:n.*116_*142dup
ENST00000379805.4:c.*981_*1007dup	ENSP00000369133.3:n.*981_*1007dup
ENST00000417819.6:c.*116_*142dup	ENSP00000404616.2:n.*116_*142dup
ENST00000423505.6:c.*116_*142dup	ENSP00000406473.2:n.*116_*142dup
ENST00000481733.2:n.1084_1110dup
ENST00000696704.1:c.*621_*647dup	ENSP00000512823.1:n.*621_*647dup
ENST00000696705.1:c.*744_*770dup	ENSP00000512824.1:n.*744_*770dup
ENST00000422285.7:c.*116_*142dup MANE Select	ENSP00000394382.2:n.*116_*142dup
ENST00000379804.1:c.*116_*142dup	ENSP00000369132.1:n.*116_*142dup
ENST00000379806.9:c.*116_*142dup	ENSP00000369134.5:n.*116_*142dup
ENST00000422285.6:c.*116_*142dup	ENSP00000394382.2:n.*116_*142dup
ENST00000478795.1:n.728_754dup
ENST00000540249.5:c.*116_*142dup	ENSP00000440761.1:n.*116_*142dup
ENST00000545074.5:c.*116_*142dup	ENSP00000438550.1:n.*116_*142dup
NM_000284.3:c.*116_*142dup	NP_000275.1:n.*116_*142dup
NM_001173454.1:c.*116_*142dup	NP_001166925.1:n.*116_*142dup
NM_001173455.1:c.*116_*142dup	NP_001166926.1:n.*116_*142dup
NM_001173456.1:c.*116_*142dup	NP_001166927.1:n.*116_*142dup
XM_011545531.1:c.*116_*142dup	XP_011543833.1:n.*116_*142dup
XM_011545532.1:c.*116_*142dup	XP_011543834.1:n.*116_*142dup
XM_017029574.2:c.*116_*142dup	XP_016885063.1:n.*116_*142dup
NM_000284.4:c.*116_*142dup MANE Select	NP_000275.1:n.*116_*142dup
NM_001173454.2:c.*116_*142dup	NP_001166925.1:n.*116_*142dup
NM_001173455.2:c.*116_*142dup	NP_001166926.1:n.*116_*142dup
NM_001173456.2:c.*116_*142dup	NP_001166927.1:n.*116_*142dup