Canonical Allele Identifier: CA640522754

Gene: PDHA1

Linked Data

• dbSNP Id: rs1168382869
• gnomAD v2: X-19378060-C-CCAGCCACCTTTTTGGGAGGA
• gnomAD v3: X-19359942-C-CCAGCCACCTTTTTGGGAGGA
• gnomAD v4: X-19359942-C-CCAGCCACCTTTTTGGGAGGA
• MyVariant Identifiers: chrX:g.19378060_19378061insCAGCCACCTTTTTGGGAGGA (hg19) ; chrX:g.19359942_19359943insCAGCCACCTTTTTGGGAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359943_19359962dup , CM000685.2:g.19359943_19359962dup	GRCh38
NC_000023.10:g.19378061_19378080dup , CM000685.1:g.19378061_19378080dup	GRCh37
NC_000023.9:g.19287982_19288001dup	NCBI36
NG_016781.1:g.21051_21070dup
NG_021184.1:g.160300_160319dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*290_*309dup	ENSP00000348062.6:n.*290_*309dup
ENST00000423505.6:c.*290_*309dup	ENSP00000406473.2:n.*290_*309dup
ENST00000696704.1:c.*795_*814dup	ENSP00000512823.1:n.*795_*814dup
ENST00000696705.1:c.*918_*937dup	ENSP00000512824.1:n.*918_*937dup
ENST00000422285.7:c.*290_*309dup MANE Select	ENSP00000394382.2:n.*290_*309dup
ENST00000379806.9:c.*290_*309dup	ENSP00000369134.5:n.*290_*309dup
ENST00000422285.6:c.*290_*309dup	ENSP00000394382.2:n.*290_*309dup
ENST00000540249.5:c.*290_*309dup	ENSP00000440761.1:n.*290_*309dup
ENST00000545074.5:c.*290_*309dup	ENSP00000438550.1:n.*290_*309dup
NM_000284.3:c.*290_*309dup	NP_000275.1:n.*290_*309dup
NM_001173454.1:c.*290_*309dup	NP_001166925.1:n.*290_*309dup
NM_001173455.1:c.*290_*309dup	NP_001166926.1:n.*290_*309dup
NM_001173456.1:c.*290_*309dup	NP_001166927.1:n.*290_*309dup
XM_011545531.1:c.*290_*309dup	XP_011543833.1:n.*290_*309dup
XM_011545532.1:c.*290_*309dup	XP_011543834.1:n.*290_*309dup
NM_000284.4:c.*290_*309dup MANE Select	NP_000275.1:n.*290_*309dup
NM_001173454.2:c.*290_*309dup	NP_001166925.1:n.*290_*309dup
NM_001173455.2:c.*290_*309dup	NP_001166926.1:n.*290_*309dup
NM_001173456.2:c.*290_*309dup	NP_001166927.1:n.*290_*309dup