Canonical Allele Identifier: CA327031633

Gene: PDHA1

Linked Data

• dbSNP Id: rs1009456388
• gnomAD v2: X-19377977-T-TTGAC
• gnomAD v3: X-19359859-T-TTGAC
• gnomAD v4: X-19359859-T-TTGAC
• MyVariant Identifiers: chrX:g.19377977_19377978insTGAC (hg19) ; chrX:g.19359859_19359860insTGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359861_19359864dup , CM000685.2:g.19359861_19359864dup	GRCh38
NC_000023.10:g.19377979_19377982dup , CM000685.1:g.19377979_19377982dup	GRCh37
NC_000023.9:g.19287900_19287903dup	NCBI36
NG_016781.1:g.20969_20972dup
NG_021184.1:g.160399_160402dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*208_*211dup	ENSP00000348062.6:n.*208_*211dup
ENST00000423505.6:c.*208_*211dup	ENSP00000406473.2:n.*208_*211dup
ENST00000696704.1:c.*713_*716dup	ENSP00000512823.1:n.*713_*716dup
ENST00000696705.1:c.*836_*839dup	ENSP00000512824.1:n.*836_*839dup
ENST00000422285.7:c.*208_*211dup MANE Select	ENSP00000394382.2:n.*208_*211dup
ENST00000379806.9:c.*208_*211dup	ENSP00000369134.5:n.*208_*211dup
ENST00000422285.6:c.*208_*211dup	ENSP00000394382.2:n.*208_*211dup
ENST00000540249.5:c.*208_*211dup	ENSP00000440761.1:n.*208_*211dup
ENST00000545074.5:c.*208_*211dup	ENSP00000438550.1:n.*208_*211dup
NM_000284.3:c.*208_*211dup	NP_000275.1:n.*208_*211dup
NM_001173454.1:c.*208_*211dup	NP_001166925.1:n.*208_*211dup
NM_001173455.1:c.*208_*211dup	NP_001166926.1:n.*208_*211dup
NM_001173456.1:c.*208_*211dup	NP_001166927.1:n.*208_*211dup
XM_011545531.1:c.*208_*211dup	XP_011543833.1:n.*208_*211dup
XM_011545532.1:c.*208_*211dup	XP_011543834.1:n.*208_*211dup
NM_000284.4:c.*208_*211dup MANE Select	NP_000275.1:n.*208_*211dup
NM_001173454.2:c.*208_*211dup	NP_001166925.1:n.*208_*211dup
NM_001173455.2:c.*208_*211dup	NP_001166926.1:n.*208_*211dup
NM_001173456.2:c.*208_*211dup	NP_001166927.1:n.*208_*211dup