Canonical Allele Identifier: CA121218

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 10883
• ClinVar RCV Id: RCV000011630
• dbSNP Id: rs137853255
• MyVariant Identifiers: chrX:g.19373590T>A (hg19) ; chrX:g.19355472T>A (hg38)
• PubMed: PMID:7692352 ; PMID:8032855

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355472T>A , CM000685.2:g.19355472T>A	GRCh38
NC_000023.10:g.19373590T>A , CM000685.1:g.19373590T>A	GRCh37
NC_000023.9:g.19283511T>A	NCBI36
NG_016781.1:g.16580T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.748T>A	ENSP00000348062.6:p.Tyr250Asn
ENST00000379805.4:c.*419T>A	ENSP00000369133.3:n.*419T>A
ENST00000417819.6:c.811T>A	ENSP00000404616.2:p.Tyr271Asn
ENST00000423505.6:c.841T>A	ENSP00000406473.2:p.Tyr281Asn
ENST00000481733.2:n.522T>A
ENST00000696704.1:c.*59T>A	ENSP00000512823.1:n.*59T>A
ENST00000696705.1:c.*182T>A	ENSP00000512824.1:n.*182T>A
ENST00000422285.7:c.727T>A MANE Select	ENSP00000394382.2:p.Tyr243Asn
ENST00000379806.9:c.841T>A	ENSP00000369134.5:p.Tyr281Asn
ENST00000422285.6:c.727T>A	ENSP00000394382.2:p.Tyr243Asn
ENST00000481733.1:n.155T>A
ENST00000540249.5:c.634T>A	ENSP00000440761.1:p.Tyr212Asn
ENST00000545074.5:c.748T>A	ENSP00000438550.1:p.Tyr250Asn
NM_000284.3:c.727T>A	NP_000275.1:p.Tyr243Asn
NM_001173454.1:c.841T>A	NP_001166925.1:p.Tyr281Asn
NM_001173455.1:c.748T>A	NP_001166926.1:p.Tyr250Asn
NM_001173456.1:c.634T>A	NP_001166927.1:p.Tyr212Asn
XM_011545531.1:c.862T>A	XP_011543833.1:p.Tyr288Asn
XM_011545532.1:c.769T>A	XP_011543834.1:p.Tyr257Asn
XM_017029574.2:c.748T>A	XP_016885063.1:p.Tyr250Asn
NM_000284.4:c.727T>A MANE Select	NP_000275.1:p.Tyr243Asn
NM_001173454.2:c.841T>A	NP_001166925.1:p.Tyr281Asn
NM_001173455.2:c.748T>A	NP_001166926.1:p.Tyr250Asn
NM_001173456.2:c.634T>A	NP_001166927.1:p.Tyr212Asn