Canonical Allele Identifier: CA1131434780

Gene: PDHA1

Linked Data

• gnomAD v3: X-19359787-C-CT
• gnomAD v4: X-19359787-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359787_19359788insT , CM000685.2:g.19359787_19359788insT	GRCh38
NC_000023.10:g.19377905_19377906insT , CM000685.1:g.19377905_19377906insT	GRCh37
NC_000023.9:g.19287826_19287827insT	NCBI36
NG_016781.1:g.20895_20896insT
NG_021184.1:g.160474_160475insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*134_*135insT	ENSP00000348062.6:n.*134_*135insT
ENST00000379805.4:c.*999_*1000insT	ENSP00000369133.3:n.*999_*1000insT
ENST00000417819.6:c.*134_*135insT	ENSP00000404616.2:n.*134_*135insT
ENST00000423505.6:c.*134_*135insT	ENSP00000406473.2:n.*134_*135insT
ENST00000481733.2:n.1102_1103insT
ENST00000696704.1:c.*639_*640insT	ENSP00000512823.1:n.*639_*640insT
ENST00000696705.1:c.*762_*763insT	ENSP00000512824.1:n.*762_*763insT
ENST00000422285.7:c.*134_*135insT MANE Select	ENSP00000394382.2:n.*134_*135insT
ENST00000379804.1:c.*134_*135insT	ENSP00000369132.1:n.*134_*135insT
ENST00000379806.9:c.*134_*135insT	ENSP00000369134.5:n.*134_*135insT
ENST00000422285.6:c.*134_*135insT	ENSP00000394382.2:n.*134_*135insT
ENST00000478795.1:n.746_747insT
ENST00000540249.5:c.*134_*135insT	ENSP00000440761.1:n.*134_*135insT
ENST00000545074.5:c.*134_*135insT	ENSP00000438550.1:n.*134_*135insT
NM_000284.3:c.*134_*135insT	NP_000275.1:n.*134_*135insT
NM_001173454.1:c.*134_*135insT	NP_001166925.1:n.*134_*135insT
NM_001173455.1:c.*134_*135insT	NP_001166926.1:n.*134_*135insT
NM_001173456.1:c.*134_*135insT	NP_001166927.1:n.*134_*135insT
XM_011545531.1:c.*134_*135insT	XP_011543833.1:n.*134_*135insT
XM_011545532.1:c.*134_*135insT	XP_011543834.1:n.*134_*135insT
XM_017029574.2:c.*134_*135insT	XP_016885063.1:n.*134_*135insT
NM_000284.4:c.*134_*135insT MANE Select	NP_000275.1:n.*134_*135insT
NM_001173454.2:c.*134_*135insT	NP_001166925.1:n.*134_*135insT
NM_001173455.2:c.*134_*135insT	NP_001166926.1:n.*134_*135insT
NM_001173456.2:c.*134_*135insT	NP_001166927.1:n.*134_*135insT