Canonical Allele Identifier: CA121213

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 10878
• ClinVar RCV Id: RCV000011625 ; RCV000196576
• dbSNP Id: rs137853259
• MyVariant Identifiers: chrX:g.19373831C>G (hg19) ; chrX:g.19355713C>G (hg38)
• PubMed: PMID:1508605 ; PMID:3137520 ; PMID:8504306 ; PMID:9266390

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355713C>G , CM000685.2:g.19355713C>G	GRCh38
NC_000023.10:g.19373831C>G , CM000685.1:g.19373831C>G	GRCh37
NC_000023.9:g.19283752C>G	NCBI36
NG_016781.1:g.16821C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.808C>G	ENSP00000348062.6:p.Arg270Gly
ENST00000379805.4:c.*479C>G	ENSP00000369133.3:n.*479C>G
ENST00000417819.6:c.871C>G	ENSP00000404616.2:p.Arg291Gly
ENST00000423505.6:c.901C>G	ENSP00000406473.2:p.Arg301Gly
ENST00000481733.2:n.582C>G
ENST00000696704.1:c.*119C>G	ENSP00000512823.1:n.*119C>G
ENST00000696705.1:c.*242C>G	ENSP00000512824.1:n.*242C>G
ENST00000422285.7:c.787C>G MANE Select	ENSP00000394382.2:p.Arg263Gly
ENST00000379804.1:c.-57C>G	ENSP00000369132.1:n.-57C>G
ENST00000379806.9:c.901C>G	ENSP00000369134.5:p.Arg301Gly
ENST00000422285.6:c.787C>G	ENSP00000394382.2:p.Arg263Gly
ENST00000481733.1:n.215C>G
ENST00000540249.5:c.694C>G	ENSP00000440761.1:p.Arg232Gly
ENST00000545074.5:c.808C>G	ENSP00000438550.1:p.Arg270Gly
NM_000284.3:c.787C>G	NP_000275.1:p.Arg263Gly
NM_001173454.1:c.901C>G	NP_001166925.1:p.Arg301Gly
NM_001173455.1:c.808C>G	NP_001166926.1:p.Arg270Gly
NM_001173456.1:c.694C>G	NP_001166927.1:p.Arg232Gly
XM_011545531.1:c.922C>G	XP_011543833.1:p.Arg308Gly
XM_011545532.1:c.829C>G	XP_011543834.1:p.Arg277Gly
XM_017029574.2:c.808C>G	XP_016885063.1:p.Arg270Gly
NM_000284.4:c.787C>G MANE Select	NP_000275.1:p.Arg263Gly
NM_001173454.2:c.901C>G	NP_001166925.1:p.Arg301Gly
NM_001173455.2:c.808C>G	NP_001166926.1:p.Arg270Gly
NM_001173456.2:c.694C>G	NP_001166927.1:p.Arg232Gly