Canonical Allele Identifier: CA873740946

Gene: PDHA1

Linked Data

• dbSNP Id: rs1390522687
• gnomAD v3: X-19357911-TATAGTGTGTGTGAGCACAAGCAGC-T
• gnomAD v4: X-19357911-TATAGTGTGTGTGAGCACAAGCAGC-T
• MyVariant Identifiers: chrX:g.19376030_19376053del (hg19) ; chrX:g.19357912_19357935del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357913_19357936del , CM000685.2:g.19357913_19357936del	GRCh38
NC_000023.10:g.19376031_19376054del , CM000685.1:g.19376031_19376054del	GRCh37
NC_000023.9:g.19285952_19285975del	NCBI36
NG_016781.1:g.19021_19044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+194_920+217del	ENSP00000348062.6:n.920+194_920+217del
ENST00000379805.4:c.*591+194_*591+217del	ENSP00000369133.3:n.*591+194_*591+217del
ENST00000417819.6:c.983+194_983+217del	ENSP00000404616.2:n.983+194_983+217del
ENST00000423505.6:c.1013+194_1013+217del	ENSP00000406473.2:n.1013+194_1013+217del
ENST00000481733.2:n.694+194_694+217del
ENST00000696704.1:c.*231+194_*231+217del	ENSP00000512823.1:n.*231+194_*231+217del
ENST00000696705.1:c.*354+194_*354+217del	ENSP00000512824.1:n.*354+194_*354+217del
ENST00000422285.7:c.899+194_899+217del MANE Select	ENSP00000394382.2:n.899+194_899+217del
ENST00000379804.1:c.56+194_56+217del	ENSP00000369132.1:n.56+194_56+217del
ENST00000379806.9:c.1013+194_1013+217del	ENSP00000369134.5:n.1013+194_1013+217del
ENST00000422285.6:c.899+194_899+217del	ENSP00000394382.2:n.899+194_899+217del
ENST00000478795.1:n.338+194_338+217del
ENST00000481733.1:n.327+194_327+217del
ENST00000540249.5:c.806+194_806+217del	ENSP00000440761.1:n.806+194_806+217del
ENST00000545074.5:c.920+194_920+217del	ENSP00000438550.1:n.920+194_920+217del
NM_000284.3:c.899+194_899+217del	NP_000275.1:n.899+194_899+217del
NM_001173454.1:c.1013+194_1013+217del	NP_001166925.1:n.1013+194_1013+217del
NM_001173455.1:c.920+194_920+217del	NP_001166926.1:n.920+194_920+217del
NM_001173456.1:c.806+194_806+217del	NP_001166927.1:n.806+194_806+217del
XM_011545531.1:c.1034+194_1034+217del	XP_011543833.1:n.1034+194_1034+217del
XM_011545532.1:c.941+194_941+217del	XP_011543834.1:n.941+194_941+217del
XM_017029574.2:c.920+194_920+217del	XP_016885063.1:n.920+194_920+217del
NM_000284.4:c.899+194_899+217del MANE Select	NP_000275.1:n.899+194_899+217del
NM_001173454.2:c.1013+194_1013+217del	NP_001166925.1:n.1013+194_1013+217del
NM_001173455.2:c.920+194_920+217del	NP_001166926.1:n.920+194_920+217del
NM_001173456.2:c.806+194_806+217del	NP_001166927.1:n.806+194_806+217del