Canonical Allele Identifier: CA1131434892

Gene: PDHA1

Linked Data

• gnomAD v3: X-19359887-A-ATACTCTAATTATGAAAAGGAAGAACAATTCCTTG
• gnomAD v4: X-19359887-A-ATACTCTAATTATGAAAAGGAAGAACAATTCCTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359890_19359923dup , CM000685.2:g.19359890_19359923dup	GRCh38
NC_000023.10:g.19378008_19378041dup , CM000685.1:g.19378008_19378041dup	GRCh37
NC_000023.9:g.19287929_19287962dup	NCBI36
NG_016781.1:g.20998_21031dup
NG_021184.1:g.160341_160374dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*237_*270dup	ENSP00000348062.6:n.*237_*270dup
ENST00000423505.6:c.*237_*270dup	ENSP00000406473.2:n.*237_*270dup
ENST00000696704.1:c.*742_*775dup	ENSP00000512823.1:n.*742_*775dup
ENST00000696705.1:c.*865_*898dup	ENSP00000512824.1:n.*865_*898dup
ENST00000422285.7:c.*237_*270dup MANE Select	ENSP00000394382.2:n.*237_*270dup
ENST00000379806.9:c.*237_*270dup	ENSP00000369134.5:n.*237_*270dup
ENST00000422285.6:c.*237_*270dup	ENSP00000394382.2:n.*237_*270dup
ENST00000540249.5:c.*237_*270dup	ENSP00000440761.1:n.*237_*270dup
ENST00000545074.5:c.*237_*270dup	ENSP00000438550.1:n.*237_*270dup
NM_000284.3:c.*237_*270dup	NP_000275.1:n.*237_*270dup
NM_001173454.1:c.*237_*270dup	NP_001166925.1:n.*237_*270dup
NM_001173455.1:c.*237_*270dup	NP_001166926.1:n.*237_*270dup
NM_001173456.1:c.*237_*270dup	NP_001166927.1:n.*237_*270dup
XM_011545531.1:c.*237_*270dup	XP_011543833.1:n.*237_*270dup
XM_011545532.1:c.*237_*270dup	XP_011543834.1:n.*237_*270dup
NM_000284.4:c.*237_*270dup MANE Select	NP_000275.1:n.*237_*270dup
NM_001173454.2:c.*237_*270dup	NP_001166925.1:n.*237_*270dup
NM_001173455.2:c.*237_*270dup	NP_001166926.1:n.*237_*270dup
NM_001173456.2:c.*237_*270dup	NP_001166927.1:n.*237_*270dup