Canonical Allele Identifier: CA873743316

Gene: PDHA1

Linked Data

• dbSNP Id: rs1326033342
• gnomAD v3: X-19359847-T-TAAAG
• gnomAD v4: X-19359847-T-TAAAG
• MyVariant Identifiers: chrX:g.19377965_19377966insAAAG (hg19) ; chrX:g.19359847_19359848insAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359849_19359852dup , CM000685.2:g.19359849_19359852dup	GRCh38
NC_000023.10:g.19377967_19377970dup , CM000685.1:g.19377967_19377970dup	GRCh37
NC_000023.9:g.19287888_19287891dup	NCBI36
NG_016781.1:g.20957_20960dup
NG_021184.1:g.160411_160414dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*196_*199dup	ENSP00000348062.6:n.*196_*199dup
ENST00000423505.6:c.*196_*199dup	ENSP00000406473.2:n.*196_*199dup
ENST00000696704.1:c.*701_*704dup	ENSP00000512823.1:n.*701_*704dup
ENST00000696705.1:c.*824_*827dup	ENSP00000512824.1:n.*824_*827dup
ENST00000422285.7:c.*196_*199dup MANE Select	ENSP00000394382.2:n.*196_*199dup
ENST00000379806.9:c.*196_*199dup	ENSP00000369134.5:n.*196_*199dup
ENST00000422285.6:c.*196_*199dup	ENSP00000394382.2:n.*196_*199dup
ENST00000540249.5:c.*196_*199dup	ENSP00000440761.1:n.*196_*199dup
ENST00000545074.5:c.*196_*199dup	ENSP00000438550.1:n.*196_*199dup
NM_000284.3:c.*196_*199dup	NP_000275.1:n.*196_*199dup
NM_001173454.1:c.*196_*199dup	NP_001166925.1:n.*196_*199dup
NM_001173455.1:c.*196_*199dup	NP_001166926.1:n.*196_*199dup
NM_001173456.1:c.*196_*199dup	NP_001166927.1:n.*196_*199dup
XM_011545531.1:c.*196_*199dup	XP_011543833.1:n.*196_*199dup
XM_011545532.1:c.*196_*199dup	XP_011543834.1:n.*196_*199dup
NM_000284.4:c.*196_*199dup MANE Select	NP_000275.1:n.*196_*199dup
NM_001173454.2:c.*196_*199dup	NP_001166925.1:n.*196_*199dup
NM_001173455.2:c.*196_*199dup	NP_001166926.1:n.*196_*199dup
NM_001173456.2:c.*196_*199dup	NP_001166927.1:n.*196_*199dup