Canonical Allele Identifier: CA327031662

Gene: PDHA1

Linked Data

• dbSNP Id: rs748590147
• gnomAD v2: X-19378005-A-ATACTC
• gnomAD v3: X-19359887-A-ATACTC
• gnomAD v4: X-19359887-A-ATACTC
• MyVariant Identifiers: chrX:g.19378005_19378006insTACTC (hg19) ; chrX:g.19359887_19359888insTACTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359890_19359894dup , CM000685.2:g.19359890_19359894dup	GRCh38
NC_000023.10:g.19378008_19378012dup , CM000685.1:g.19378008_19378012dup	GRCh37
NC_000023.9:g.19287929_19287933dup	NCBI36
NG_016781.1:g.20998_21002dup
NG_021184.1:g.160370_160374dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*237_*241dup	ENSP00000348062.6:n.*237_*241dup
ENST00000423505.6:c.*237_*241dup	ENSP00000406473.2:n.*237_*241dup
ENST00000696704.1:c.*742_*746dup	ENSP00000512823.1:n.*742_*746dup
ENST00000696705.1:c.*865_*869dup	ENSP00000512824.1:n.*865_*869dup
ENST00000422285.7:c.*237_*241dup MANE Select	ENSP00000394382.2:n.*237_*241dup
ENST00000379806.9:c.*237_*241dup	ENSP00000369134.5:n.*237_*241dup
ENST00000422285.6:c.*237_*241dup	ENSP00000394382.2:n.*237_*241dup
ENST00000540249.5:c.*237_*241dup	ENSP00000440761.1:n.*237_*241dup
ENST00000545074.5:c.*237_*241dup	ENSP00000438550.1:n.*237_*241dup
NM_000284.3:c.*237_*241dup	NP_000275.1:n.*237_*241dup
NM_001173454.1:c.*237_*241dup	NP_001166925.1:n.*237_*241dup
NM_001173455.1:c.*237_*241dup	NP_001166926.1:n.*237_*241dup
NM_001173456.1:c.*237_*241dup	NP_001166927.1:n.*237_*241dup
XM_011545531.1:c.*237_*241dup	XP_011543833.1:n.*237_*241dup
XM_011545532.1:c.*237_*241dup	XP_011543834.1:n.*237_*241dup
NM_000284.4:c.*237_*241dup MANE Select	NP_000275.1:n.*237_*241dup
NM_001173454.2:c.*237_*241dup	NP_001166925.1:n.*237_*241dup
NM_001173455.2:c.*237_*241dup	NP_001166926.1:n.*237_*241dup
NM_001173456.2:c.*237_*241dup	NP_001166927.1:n.*237_*241dup