Canonical Allele Identifier: CA2693251391

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359724-G-GAAAACCCAGTCAATGAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359725_19359742dup , CM000685.2:g.19359725_19359742dup	GRCh38
NC_000023.10:g.19377843_19377860dup , CM000685.1:g.19377843_19377860dup	GRCh37
NC_000023.9:g.19287764_19287781dup	NCBI36
NG_016781.1:g.20833_20850dup
NG_021184.1:g.160520_160537dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*72_*89dup	ENSP00000348062.6:n.*72_*89dup
ENST00000379805.4:c.*937_*954dup	ENSP00000369133.3:n.*937_*954dup
ENST00000417819.6:c.*72_*89dup	ENSP00000404616.2:n.*72_*89dup
ENST00000423505.6:c.*72_*89dup	ENSP00000406473.2:n.*72_*89dup
ENST00000481733.2:n.1040_1057dup
ENST00000696704.1:c.*577_*594dup	ENSP00000512823.1:n.*577_*594dup
ENST00000696705.1:c.*700_*717dup	ENSP00000512824.1:n.*700_*717dup
ENST00000422285.7:c.*72_*89dup MANE Select	ENSP00000394382.2:n.*72_*89dup
ENST00000379804.1:c.*72_*89dup	ENSP00000369132.1:n.*72_*89dup
ENST00000379806.9:c.*72_*89dup	ENSP00000369134.5:n.*72_*89dup
ENST00000422285.6:c.*72_*89dup	ENSP00000394382.2:n.*72_*89dup
ENST00000478795.1:n.684_701dup
ENST00000540249.5:c.*72_*89dup	ENSP00000440761.1:n.*72_*89dup
ENST00000545074.5:c.*72_*89dup	ENSP00000438550.1:n.*72_*89dup
NM_000284.3:c.*72_*89dup	NP_000275.1:n.*72_*89dup
NM_001173454.1:c.*72_*89dup	NP_001166925.1:n.*72_*89dup
NM_001173455.1:c.*72_*89dup	NP_001166926.1:n.*72_*89dup
NM_001173456.1:c.*72_*89dup	NP_001166927.1:n.*72_*89dup
XM_011545531.1:c.*72_*89dup	XP_011543833.1:n.*72_*89dup
XM_011545532.1:c.*72_*89dup	XP_011543834.1:n.*72_*89dup
XM_017029574.2:c.*72_*89dup	XP_016885063.1:n.*72_*89dup
NM_000284.4:c.*72_*89dup MANE Select	NP_000275.1:n.*72_*89dup
NM_001173454.2:c.*72_*89dup	NP_001166925.1:n.*72_*89dup
NM_001173455.2:c.*72_*89dup	NP_001166926.1:n.*72_*89dup
NM_001173456.2:c.*72_*89dup	NP_001166927.1:n.*72_*89dup