Canonical Allele Identifier: CA640522280

Gene: PDHA1

Linked Data

• dbSNP Id: rs1219560568
• gnomAD v2: X-19376028-G-GTATAGTGTGTGTGAGCACA
• gnomAD v3: X-19357910-G-GTATAGTGTGTGTGAGCACA
• gnomAD v4: X-19357910-G-GTATAGTGTGTGTGAGCACA
• MyVariant Identifiers: chrX:g.19376028_19376029insTATAGTGTGTGTGAGCACA (hg19) ; chrX:g.19357910_19357911insTATAGTGTGTGTGAGCACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357911_19357929dup , CM000685.2:g.19357911_19357929dup	GRCh38
NC_000023.10:g.19376029_19376047dup , CM000685.1:g.19376029_19376047dup	GRCh37
NC_000023.9:g.19285950_19285968dup	NCBI36
NG_016781.1:g.19019_19037dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+192_920+210dup	ENSP00000348062.6:n.920+192_920+210dup
ENST00000379805.4:c.*591+192_*591+210dup	ENSP00000369133.3:n.*591+192_*591+210dup
ENST00000417819.6:c.983+192_983+210dup	ENSP00000404616.2:n.983+192_983+210dup
ENST00000423505.6:c.1013+192_1013+210dup	ENSP00000406473.2:n.1013+192_1013+210dup
ENST00000481733.2:n.694+192_694+210dup
ENST00000696704.1:c.*231+192_*231+210dup	ENSP00000512823.1:n.*231+192_*231+210dup
ENST00000696705.1:c.*354+192_*354+210dup	ENSP00000512824.1:n.*354+192_*354+210dup
ENST00000422285.7:c.899+192_899+210dup MANE Select	ENSP00000394382.2:n.899+192_899+210dup
ENST00000379804.1:c.56+192_56+210dup	ENSP00000369132.1:n.56+192_56+210dup
ENST00000379806.9:c.1013+192_1013+210dup	ENSP00000369134.5:n.1013+192_1013+210dup
ENST00000422285.6:c.899+192_899+210dup	ENSP00000394382.2:n.899+192_899+210dup
ENST00000478795.1:n.338+192_338+210dup
ENST00000481733.1:n.327+192_327+210dup
ENST00000540249.5:c.806+192_806+210dup	ENSP00000440761.1:n.806+192_806+210dup
ENST00000545074.5:c.920+192_920+210dup	ENSP00000438550.1:n.920+192_920+210dup
NM_000284.3:c.899+192_899+210dup	NP_000275.1:n.899+192_899+210dup
NM_001173454.1:c.1013+192_1013+210dup	NP_001166925.1:n.1013+192_1013+210dup
NM_001173455.1:c.920+192_920+210dup	NP_001166926.1:n.920+192_920+210dup
NM_001173456.1:c.806+192_806+210dup	NP_001166927.1:n.806+192_806+210dup
XM_011545531.1:c.1034+192_1034+210dup	XP_011543833.1:n.1034+192_1034+210dup
XM_011545532.1:c.941+192_941+210dup	XP_011543834.1:n.941+192_941+210dup
XM_017029574.2:c.920+192_920+210dup	XP_016885063.1:n.920+192_920+210dup
NM_000284.4:c.899+192_899+210dup MANE Select	NP_000275.1:n.899+192_899+210dup
NM_001173454.2:c.1013+192_1013+210dup	NP_001166925.1:n.1013+192_1013+210dup
NM_001173455.2:c.920+192_920+210dup	NP_001166926.1:n.920+192_920+210dup
NM_001173456.2:c.806+192_806+210dup	NP_001166927.1:n.806+192_806+210dup