Canonical Allele Identifier: CA121219

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 10884
• ClinVar RCV Id: RCV000011631 ; RCV001268860
• dbSNP Id: rs137853256
• MyVariant Identifiers: chrX:g.19377077G>A (hg19) ; chrX:g.19358959G>A (hg38)
• PubMed: PMID:7692352 ; PMID:8032855

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358959G>A , CM000685.2:g.19358959G>A	GRCh38
NC_000023.10:g.19377077G>A , CM000685.1:g.19377077G>A	GRCh37
NC_000023.9:g.19286998G>A	NCBI36
NG_016781.1:g.20067G>A
NG_021184.1:g.161303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.964G>A	ENSP00000348062.6:p.Asp322Asn
ENST00000379805.4:c.*635G>A	ENSP00000369133.3:n.*635G>A
ENST00000417819.6:c.1027G>A	ENSP00000404616.2:p.Asp343Asn
ENST00000423505.6:c.1057G>A	ENSP00000406473.2:p.Asp353Asn
ENST00000481733.2:n.738G>A
ENST00000696704.1:c.*275G>A	ENSP00000512823.1:n.*275G>A
ENST00000696705.1:c.*398G>A	ENSP00000512824.1:n.*398G>A
ENST00000422285.7:c.943G>A MANE Select	ENSP00000394382.2:p.Asp315Asn
ENST00000379804.1:c.100G>A	ENSP00000369132.1:p.Asp34Asn
ENST00000379806.9:c.1057G>A	ENSP00000369134.5:p.Asp353Asn
ENST00000422285.6:c.943G>A	ENSP00000394382.2:p.Asp315Asn
ENST00000478795.1:n.382G>A
ENST00000481733.1:n.371G>A
ENST00000540249.5:c.850G>A	ENSP00000440761.1:p.Asp284Asn
ENST00000545074.5:c.964G>A	ENSP00000438550.1:p.Asp322Asn
NM_000284.3:c.943G>A	NP_000275.1:p.Asp315Asn
NM_001173454.1:c.1057G>A	NP_001166925.1:p.Asp353Asn
NM_001173455.1:c.964G>A	NP_001166926.1:p.Asp322Asn
NM_001173456.1:c.850G>A	NP_001166927.1:p.Asp284Asn
XM_011545531.1:c.1078G>A	XP_011543833.1:p.Asp360Asn
XM_011545532.1:c.985G>A	XP_011543834.1:p.Asp329Asn
XM_017029574.2:c.964G>A	XP_016885063.1:p.Asp322Asn
NM_000284.4:c.943G>A MANE Select	NP_000275.1:p.Asp315Asn
NM_001173454.2:c.1057G>A	NP_001166925.1:p.Asp353Asn
NM_001173455.2:c.964G>A	NP_001166926.1:p.Asp322Asn
NM_001173456.2:c.850G>A	NP_001166927.1:p.Asp284Asn