Canonical Allele Identifier: CA121215

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 10880
• ClinVar RCV Id: RCV000011627 ; RCV000199126 ; RCV000624104 ; RCV001753411
• dbSNP Id: rs606231189
• MyVariant Identifiers: chrX:g.19377740_19377743dupATCA (hg19) ; chrX:g.19359622_19359625dupATCA (hg38)
• ERepo: CA121215/MONDO:0019169/014
• PubMed: PMID:1338114 ; PMID:1779625 ; PMID:1909778 ; PMID:7887408 ; PMID:8504309 ; PMID:10679936 ; PMID:15384102 ; PMID:21914562 ; PMID:23021068 ; PMID:25526709 ; PMID:26008863 ; PMID:26944031 ; PMID:27144126 ; PMID:27896109

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359622_19359625dup , CM000685.2:g.19359622_19359625dup	GRCh38
NC_000023.10:g.19377740_19377743dup , CM000685.1:g.19377740_19377743dup	GRCh37
NC_000023.9:g.19287661_19287664dup	NCBI36
NG_016781.1:g.20730_20733dup
NG_021184.1:g.160639_160642dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1163_1166dup	ENSP00000348062.6:p.Trp390SerfsTer6
ENST00000379805.4:c.*834_*837dup	ENSP00000369133.3:n.*834_*837dup
ENST00000417819.6:c.1226_1229dup	ENSP00000404616.2:p.Trp411SerfsTer6
ENST00000423505.6:c.1256_1259dup	ENSP00000406473.2:p.Trp421SerfsTer6
ENST00000481733.2:n.937_940dup
ENST00000696704.1:c.*474_*477dup	ENSP00000512823.1:n.*474_*477dup
ENST00000696705.1:c.*597_*600dup	ENSP00000512824.1:n.*597_*600dup
ENST00000422285.7:c.1142_1145dup MANE Select	ENSP00000394382.2:p.Trp383SerfsTer6
ENST00000379804.1:c.299_302dup	ENSP00000369132.1:p.Trp102SerfsTer6
ENST00000379806.9:c.1256_1259dup	ENSP00000369134.5:p.Trp421SerfsTer6
ENST00000422285.6:c.1142_1145dup	ENSP00000394382.2:p.Trp383SerfsTer6
ENST00000478795.1:n.581_584dup
ENST00000540249.5:c.1049_1052dup	ENSP00000440761.1:p.Trp352SerfsTer6
ENST00000545074.5:c.1163_1166dup	ENSP00000438550.1:p.Trp390SerfsTer6
NM_000284.3:c.1142_1145dup	NP_000275.1:p.Trp383SerfsTer6
NM_001173454.1:c.1256_1259dup	NP_001166925.1:p.Trp421SerfsTer6
NM_001173455.1:c.1163_1166dup	NP_001166926.1:p.Trp390SerfsTer6
NM_001173456.1:c.1049_1052dup	NP_001166927.1:p.Trp352SerfsTer6
XM_011545531.1:c.1277_1280dup	XP_011543833.1:p.Trp428SerfsTer6
XM_011545532.1:c.1184_1187dup	XP_011543834.1:p.Trp397SerfsTer6
XM_017029574.2:c.1163_1166dup	XP_016885063.1:p.Trp390SerfsTer6
NM_000284.4:c.1142_1145dup MANE Select	NP_000275.1:p.Trp383SerfsTer6
NM_001173454.2:c.1256_1259dup	NP_001166925.1:p.Trp421SerfsTer6
NM_001173455.2:c.1163_1166dup	NP_001166926.1:p.Trp390SerfsTer6
NM_001173456.2:c.1049_1052dup	NP_001166927.1:p.Trp352SerfsTer6