Canonical Allele Identifier: CA327030122

Gene: PDHA1

Linked Data

• dbSNP Id: rs983555521
• gnomAD v3: X-19358590-CATCTAA-C
• gnomAD v4: X-19358590-CATCTAA-C
• MyVariant Identifiers: chrX:g.19376709_19376714del (hg19) ; chrX:g.19358591_19358596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358594_19358599del , CM000685.2:g.19358594_19358599del	GRCh38
NC_000023.10:g.19376712_19376717del , CM000685.1:g.19376712_19376717del	GRCh37
NC_000023.9:g.19286633_19286638del	NCBI36
NG_016781.1:g.19702_19707del
NG_021184.1:g.161666_161671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.921-322_921-317del	ENSP00000348062.6:n.921-322_921-317del
ENST00000379805.4:c.*592-322_*592-317del	ENSP00000369133.3:n.*592-322_*592-317del
ENST00000417819.6:c.984-322_984-317del	ENSP00000404616.2:n.984-322_984-317del
ENST00000423505.6:c.1014-322_1014-317del	ENSP00000406473.2:n.1014-322_1014-317del
ENST00000481733.2:n.695-322_695-317del
ENST00000696704.1:c.*232-322_*232-317del	ENSP00000512823.1:n.*232-322_*232-317del
ENST00000696705.1:c.*355-322_*355-317del	ENSP00000512824.1:n.*355-322_*355-317del
ENST00000422285.7:c.900-322_900-317del MANE Select	ENSP00000394382.2:n.900-322_900-317del
ENST00000379804.1:c.57-322_57-317del	ENSP00000369132.1:n.57-322_57-317del
ENST00000379806.9:c.1014-322_1014-317del	ENSP00000369134.5:n.1014-322_1014-317del
ENST00000422285.6:c.900-322_900-317del	ENSP00000394382.2:n.900-322_900-317del
ENST00000478795.1:n.339-322_339-317del
ENST00000481733.1:n.328-322_328-317del
ENST00000540249.5:c.807-322_807-317del	ENSP00000440761.1:n.807-322_807-317del
ENST00000545074.5:c.921-322_921-317del	ENSP00000438550.1:n.921-322_921-317del
NM_000284.3:c.900-322_900-317del	NP_000275.1:n.900-322_900-317del
NM_001173454.1:c.1014-322_1014-317del	NP_001166925.1:n.1014-322_1014-317del
NM_001173455.1:c.921-322_921-317del	NP_001166926.1:n.921-322_921-317del
NM_001173456.1:c.807-322_807-317del	NP_001166927.1:n.807-322_807-317del
XM_011545531.1:c.1035-322_1035-317del	XP_011543833.1:n.1035-322_1035-317del
XM_011545532.1:c.942-322_942-317del	XP_011543834.1:n.942-322_942-317del
XM_017029574.2:c.921-322_921-317del	XP_016885063.1:n.921-322_921-317del
NM_000284.4:c.900-322_900-317del MANE Select	NP_000275.1:n.900-322_900-317del
NM_001173454.2:c.1014-322_1014-317del	NP_001166925.1:n.1014-322_1014-317del
NM_001173455.2:c.921-322_921-317del	NP_001166926.1:n.921-322_921-317del
NM_001173456.2:c.807-322_807-317del	NP_001166927.1:n.807-322_807-317del