Canonical Allele Identifier: CA873743387

Gene: PDHA1

Linked Data

• dbSNP Id: rs1278972514
• MyVariant Identifiers: chrX:g.19378071_19378072insTTGGGAGGAGACCATTA (hg19) ; chrX:g.19359953_19359954insTTGGGAGGAGACCATTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359955_19359971dup , CM000685.2:g.19359955_19359971dup	GRCh38
NC_000023.10:g.19378073_19378089dup , CM000685.1:g.19378073_19378089dup	GRCh37
NC_000023.9:g.19287994_19288010dup	NCBI36
NG_016781.1:g.21063_21079dup
NG_021184.1:g.160292_160308dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*302_*318dup	ENSP00000348062.6:n.*302_*318dup
ENST00000423505.6:c.*302_*318dup	ENSP00000406473.2:n.*302_*318dup
ENST00000696704.1:c.*807_*823dup	ENSP00000512823.1:n.*807_*823dup
ENST00000696705.1:c.*930_*946dup	ENSP00000512824.1:n.*930_*946dup
ENST00000422285.7:c.*302_*318dup MANE Select	ENSP00000394382.2:n.*302_*318dup
ENST00000379806.9:c.*302_*318dup	ENSP00000369134.5:n.*302_*318dup
ENST00000422285.6:c.*302_*318dup	ENSP00000394382.2:n.*302_*318dup
ENST00000540249.5:c.*302_*318dup	ENSP00000440761.1:n.*302_*318dup
ENST00000545074.5:c.*302_*318dup	ENSP00000438550.1:n.*302_*318dup
NM_000284.3:c.*302_*318dup	NP_000275.1:n.*302_*318dup
NM_001173454.1:c.*302_*318dup	NP_001166925.1:n.*302_*318dup
NM_001173455.1:c.*302_*318dup	NP_001166926.1:n.*302_*318dup
NM_001173456.1:c.*302_*318dup	NP_001166927.1:n.*302_*318dup
XM_011545531.1:c.*302_*318dup	XP_011543833.1:n.*302_*318dup
XM_011545532.1:c.*302_*318dup	XP_011543834.1:n.*302_*318dup
NM_000284.4:c.*302_*318dup MANE Select	NP_000275.1:n.*302_*318dup
NM_001173454.2:c.*302_*318dup	NP_001166925.1:n.*302_*318dup
NM_001173455.2:c.*302_*318dup	NP_001166926.1:n.*302_*318dup
NM_001173456.2:c.*302_*318dup	NP_001166927.1:n.*302_*318dup