Canonical Allele Identifier: CA327029852

Gene: PDHA1

Linked Data

• dbSNP Id: rs928830975
• gnomAD v3: X-19358013-G-GTATC
• gnomAD v4: X-19358013-G-GTATC
• MyVariant Identifiers: chrX:g.19376131_19376132insTATC (hg19) ; chrX:g.19358013_19358014insTATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358015_19358018dup , CM000685.2:g.19358015_19358018dup	GRCh38
NC_000023.10:g.19376133_19376136dup , CM000685.1:g.19376133_19376136dup	GRCh37
NC_000023.9:g.19286054_19286057dup	NCBI36
NG_016781.1:g.19123_19126dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+296_920+299dup	ENSP00000348062.6:n.920+296_920+299dup
ENST00000379805.4:c.*591+296_*591+299dup	ENSP00000369133.3:n.*591+296_*591+299dup
ENST00000417819.6:c.983+296_983+299dup	ENSP00000404616.2:n.983+296_983+299dup
ENST00000423505.6:c.1013+296_1013+299dup	ENSP00000406473.2:n.1013+296_1013+299dup
ENST00000481733.2:n.694+296_694+299dup
ENST00000696704.1:c.*231+296_*231+299dup	ENSP00000512823.1:n.*231+296_*231+299dup
ENST00000696705.1:c.*354+296_*354+299dup	ENSP00000512824.1:n.*354+296_*354+299dup
ENST00000422285.7:c.899+296_899+299dup MANE Select	ENSP00000394382.2:n.899+296_899+299dup
ENST00000379804.1:c.56+296_56+299dup	ENSP00000369132.1:n.56+296_56+299dup
ENST00000379806.9:c.1013+296_1013+299dup	ENSP00000369134.5:n.1013+296_1013+299dup
ENST00000422285.6:c.899+296_899+299dup	ENSP00000394382.2:n.899+296_899+299dup
ENST00000478795.1:n.338+296_338+299dup
ENST00000481733.1:n.327+296_327+299dup
ENST00000540249.5:c.806+296_806+299dup	ENSP00000440761.1:n.806+296_806+299dup
ENST00000545074.5:c.920+296_920+299dup	ENSP00000438550.1:n.920+296_920+299dup
NM_000284.3:c.899+296_899+299dup	NP_000275.1:n.899+296_899+299dup
NM_001173454.1:c.1013+296_1013+299dup	NP_001166925.1:n.1013+296_1013+299dup
NM_001173455.1:c.920+296_920+299dup	NP_001166926.1:n.920+296_920+299dup
NM_001173456.1:c.806+296_806+299dup	NP_001166927.1:n.806+296_806+299dup
XM_011545531.1:c.1034+296_1034+299dup	XP_011543833.1:n.1034+296_1034+299dup
XM_011545532.1:c.941+296_941+299dup	XP_011543834.1:n.941+296_941+299dup
XM_017029574.2:c.920+296_920+299dup	XP_016885063.1:n.920+296_920+299dup
NM_000284.4:c.899+296_899+299dup MANE Select	NP_000275.1:n.899+296_899+299dup
NM_001173454.2:c.1013+296_1013+299dup	NP_001166925.1:n.1013+296_1013+299dup
NM_001173455.2:c.920+296_920+299dup	NP_001166926.1:n.920+296_920+299dup
NM_001173456.2:c.806+296_806+299dup	NP_001166927.1:n.806+296_806+299dup