Canonical Allele Identifier: CA2693251464

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359835-T-TTATTGAGTGCTTAAAGATTATTTTTGACTTAAAATAG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359839_19359875dup , CM000685.2:g.19359839_19359875dup	GRCh38
NC_000023.10:g.19377957_19377993dup , CM000685.1:g.19377957_19377993dup	GRCh37
NC_000023.9:g.19287878_19287914dup	NCBI36
NG_016781.1:g.20947_20983dup
NG_021184.1:g.160390_160426dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*186_*222dup	ENSP00000348062.6:n.*186_*222dup
ENST00000423505.6:c.*186_*222dup	ENSP00000406473.2:n.*186_*222dup
ENST00000696704.1:c.*691_*727dup	ENSP00000512823.1:n.*691_*727dup
ENST00000696705.1:c.*814_*850dup	ENSP00000512824.1:n.*814_*850dup
ENST00000422285.7:c.*186_*222dup MANE Select	ENSP00000394382.2:n.*186_*222dup
ENST00000379806.9:c.*186_*222dup	ENSP00000369134.5:n.*186_*222dup
ENST00000422285.6:c.*186_*222dup	ENSP00000394382.2:n.*186_*222dup
ENST00000540249.5:c.*186_*222dup	ENSP00000440761.1:n.*186_*222dup
ENST00000545074.5:c.*186_*222dup	ENSP00000438550.1:n.*186_*222dup
NM_000284.3:c.*186_*222dup	NP_000275.1:n.*186_*222dup
NM_001173454.1:c.*186_*222dup	NP_001166925.1:n.*186_*222dup
NM_001173455.1:c.*186_*222dup	NP_001166926.1:n.*186_*222dup
NM_001173456.1:c.*186_*222dup	NP_001166927.1:n.*186_*222dup
XM_011545531.1:c.*186_*222dup	XP_011543833.1:n.*186_*222dup
XM_011545532.1:c.*186_*222dup	XP_011543834.1:n.*186_*222dup
NM_000284.4:c.*186_*222dup MANE Select	NP_000275.1:n.*186_*222dup
NM_001173454.2:c.*186_*222dup	NP_001166925.1:n.*186_*222dup
NM_001173455.2:c.*186_*222dup	NP_001166926.1:n.*186_*222dup
NM_001173456.2:c.*186_*222dup	NP_001166927.1:n.*186_*222dup