Canonical Allele Identifier: CA1139667324

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 871396
• ClinVar RCV Id: RCV001091317
• dbSNP Id: rs2063188850

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355369dup , CM000685.2:g.19355369dup	GRCh38
NC_000023.10:g.19373487dup , CM000685.1:g.19373487dup	GRCh37
NC_000023.9:g.19283408dup	NCBI36
NG_016781.1:g.16477dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.645dup	ENSP00000348062.6:p.Asn216GlnfsTer15
ENST00000379805.4:c.*316dup	ENSP00000369133.3:n.*316dup
ENST00000417819.6:c.708dup	ENSP00000404616.2:p.Asn237GlnfsTer15
ENST00000423505.6:c.738dup	ENSP00000406473.2:p.Asn247GlnfsTer15
ENST00000481733.2:n.419dup
ENST00000696704.1:c.439dup	ENSP00000512823.1:p.Gln147ProfsTer?
ENST00000696705.1:c.*79dup	ENSP00000512824.1:n.*79dup
ENST00000422285.7:c.624dup MANE Select	ENSP00000394382.2:p.Asn209GlnfsTer15
ENST00000379806.9:c.738dup	ENSP00000369134.5:p.Asn247GlnfsTer15
ENST00000422285.6:c.624dup	ENSP00000394382.2:p.Asn209GlnfsTer15
ENST00000479146.1:n.459dup
ENST00000481733.1:n.52dup
ENST00000540249.5:c.531dup	ENSP00000440761.1:p.Asn178GlnfsTer15
ENST00000545074.5:c.645dup	ENSP00000438550.1:p.Asn216GlnfsTer15
NM_000284.3:c.624dup	NP_000275.1:p.Asn209GlnfsTer15
NM_001173454.1:c.738dup	NP_001166925.1:p.Asn247GlnfsTer15
NM_001173455.1:c.645dup	NP_001166926.1:p.Asn216GlnfsTer15
NM_001173456.1:c.531dup	NP_001166927.1:p.Asn178GlnfsTer15
XM_011545531.1:c.759dup	XP_011543833.1:p.Asn254GlnfsTer15
XM_011545532.1:c.666dup	XP_011543834.1:p.Asn223GlnfsTer15
XM_017029574.2:c.645dup	XP_016885063.1:p.Asn216GlnfsTer15
NM_000284.4:c.624dup MANE Select	NP_000275.1:p.Asn209GlnfsTer15
NM_001173454.2:c.738dup	NP_001166925.1:p.Asn247GlnfsTer15
NM_001173455.2:c.645dup	NP_001166926.1:p.Asn216GlnfsTer15
NM_001173456.2:c.531dup	NP_001166927.1:p.Asn178GlnfsTer15