Canonical Allele Identifier: CA1139667325

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 871397
• ClinVar RCV Id: RCV001091318
• dbSNP Id: rs2063189611

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355466_19355469dup , CM000685.2:g.19355466_19355469dup	GRCh38
NC_000023.10:g.19373584_19373587dup , CM000685.1:g.19373584_19373587dup	GRCh37
NC_000023.9:g.19283505_19283508dup	NCBI36
NG_016781.1:g.16574_16577dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.742_745dup	ENSP00000348062.6:p.Tyr249Ter
ENST00000379805.4:c.*413_*416dup	ENSP00000369133.3:n.*413_*416dup
ENST00000417819.6:c.805_808dup	ENSP00000404616.2:p.Tyr270Ter
ENST00000423505.6:c.835_838dup	ENSP00000406473.2:p.Tyr280Ter
ENST00000481733.2:n.516_519dup
ENST00000696704.1:c.*53_*56dup	ENSP00000512823.1:n.*53_*56dup
ENST00000696705.1:c.*176_*179dup	ENSP00000512824.1:n.*176_*179dup
ENST00000422285.7:c.721_724dup MANE Select	ENSP00000394382.2:p.Tyr242Ter
ENST00000379806.9:c.835_838dup	ENSP00000369134.5:p.Tyr280Ter
ENST00000422285.6:c.721_724dup	ENSP00000394382.2:p.Tyr242Ter
ENST00000481733.1:n.149_152dup
ENST00000540249.5:c.628_631dup	ENSP00000440761.1:p.Tyr211Ter
ENST00000545074.5:c.742_745dup	ENSP00000438550.1:p.Tyr249Ter
NM_000284.3:c.721_724dup	NP_000275.1:p.Tyr242Ter
NM_001173454.1:c.835_838dup	NP_001166925.1:p.Tyr280Ter
NM_001173455.1:c.742_745dup	NP_001166926.1:p.Tyr249Ter
NM_001173456.1:c.628_631dup	NP_001166927.1:p.Tyr211Ter
XM_011545531.1:c.856_859dup	XP_011543833.1:p.Tyr287Ter
XM_011545532.1:c.763_766dup	XP_011543834.1:p.Tyr256Ter
XM_017029574.2:c.742_745dup	XP_016885063.1:p.Tyr249Ter
NM_000284.4:c.721_724dup MANE Select	NP_000275.1:p.Tyr242Ter
NM_001173454.2:c.835_838dup	NP_001166925.1:p.Tyr280Ter
NM_001173455.2:c.742_745dup	NP_001166926.1:p.Tyr249Ter
NM_001173456.2:c.628_631dup	NP_001166927.1:p.Tyr211Ter