Canonical Allele Identifier: CA658799596

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 523915
• ClinVar RCV Id: RCV000627391 ; RCV001271291
• dbSNP Id: rs1555935577
• MyVariant Identifiers: chrX:g.19377770_19377774del (hg19) ; chrX:g.19359652_19359656del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359652_19359656del , CM000685.2:g.19359652_19359656del	GRCh38
NC_000023.10:g.19377770_19377774del , CM000685.1:g.19377770_19377774del	GRCh37
NC_000023.9:g.19287691_19287695del	NCBI36
NG_016781.1:g.20760_20764del
NG_021184.1:g.160606_160610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1193_*3del	ENSP00000348062.6:n.[c.1193_*3del;Ter398=]
ENST00000379805.4:c.*864_*868del	ENSP00000369133.3:n.*864_*868del
ENST00000417819.6:c.1256_*3del	ENSP00000404616.2:n.[c.1256_*3del;Ter419=]
ENST00000423505.6:c.1286_*3del	ENSP00000406473.2:n.[c.1286_*3del;Ter429=]
ENST00000481733.2:n.967_971del
ENST00000696704.1:c.*504_*508del	ENSP00000512823.1:n.*504_*508del
ENST00000696705.1:c.*627_*631del	ENSP00000512824.1:n.*627_*631del
ENST00000422285.7:c.1172_*3del MANE Select	ENSP00000394382.2:n.[c.1172_*3del;Ter391=]
ENST00000379804.1:c.329_*3del	ENSP00000369132.1:n.[c.329_*3del;Ter110=]
ENST00000379806.9:c.1286_*3del	ENSP00000369134.5:n.[c.1286_*3del;Ter429=]
ENST00000422285.6:c.1172_*3del	ENSP00000394382.2:n.[c.1172_*3del;Ter391=]
ENST00000478795.1:n.611_615del
ENST00000540249.5:c.1079_*3del	ENSP00000440761.1:n.[c.1079_*3del;Ter360=]
ENST00000545074.5:c.1193_*3del	ENSP00000438550.1:n.[c.1193_*3del;Ter398=]
NM_000284.3:c.1172_*3del	NP_000275.1:n.[c.1172_*3del;Ter391=]
NM_001173454.1:c.1286_*3del	NP_001166925.1:n.[c.1286_*3del;Ter429=]
NM_001173455.1:c.1193_*3del	NP_001166926.1:n.[c.1193_*3del;Ter398=]
NM_001173456.1:c.1079_*3del	NP_001166927.1:n.[c.1079_*3del;Ter360=]
XM_011545531.1:c.1307_*3del	XP_011543833.1:n.[c.1307_*3del;Ter436=]
XM_011545532.1:c.1214_*3del	XP_011543834.1:n.[c.1214_*3del;Ter405=]
XM_017029574.2:c.1193_*3del	XP_016885063.1:n.[c.1193_*3del;Ter398=]
NM_000284.4:c.1172_*3del MANE Select	NP_000275.1:n.[c.1172_*3del;Ter391=]
NM_001173454.2:c.1286_*3del	NP_001166925.1:n.[c.1286_*3del;Ter429=]
NM_001173455.2:c.1193_*3del	NP_001166926.1:n.[c.1193_*3del;Ter398=]
NM_001173456.2:c.1079_*3del	NP_001166927.1:n.[c.1079_*3del;Ter360=]