Canonical Allele Identifier: CA121205

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 10873
• ClinVar RCV Id: RCV000011620 ; RCV001267918 ; RCV002251895
• dbSNP Id: rs137853250
• ExAC: X:19377731 G / A
• MyVariant Identifiers: chrX:g.19377731G>A (hg19) ; chrX:g.19359613G>A (hg38)
• PubMed: PMID:1909401 ; PMID:7692352 ; PMID:8032855

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359613G>A , CM000685.2:g.19359613G>A	GRCh38
NC_000023.10:g.19377731G>A , CM000685.1:g.19377731G>A	GRCh37
NC_000023.9:g.19287652G>A	NCBI36
NG_016781.1:g.20721G>A
NG_021184.1:g.160649C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1154G>A	ENSP00000348062.6:p.Arg385His
ENST00000379805.4:c.*825G>A	ENSP00000369133.3:n.*825G>A
ENST00000417819.6:c.1217G>A	ENSP00000404616.2:p.Arg406His
ENST00000423505.6:c.1247G>A	ENSP00000406473.2:p.Arg416His
ENST00000481733.2:n.928G>A
ENST00000696704.1:c.*465G>A	ENSP00000512823.1:n.*465G>A
ENST00000696705.1:c.*588G>A	ENSP00000512824.1:n.*588G>A
ENST00000422285.7:c.1133G>A MANE Select	ENSP00000394382.2:p.Arg378His
ENST00000379804.1:c.290G>A	ENSP00000369132.1:p.Arg97His
ENST00000379806.9:c.1247G>A	ENSP00000369134.5:p.Arg416His
ENST00000422285.6:c.1133G>A	ENSP00000394382.2:p.Arg378His
ENST00000478795.1:n.572G>A
ENST00000540249.5:c.1040G>A	ENSP00000440761.1:p.Arg347His
ENST00000545074.5:c.1154G>A	ENSP00000438550.1:p.Arg385His
NM_000284.3:c.1133G>A	NP_000275.1:p.Arg378His
NM_001173454.1:c.1247G>A	NP_001166925.1:p.Arg416His
NM_001173455.1:c.1154G>A	NP_001166926.1:p.Arg385His
NM_001173456.1:c.1040G>A	NP_001166927.1:p.Arg347His
XM_011545531.1:c.1268G>A	XP_011543833.1:p.Arg423His
XM_011545532.1:c.1175G>A	XP_011543834.1:p.Arg392His
XM_017029574.2:c.1154G>A	XP_016885063.1:p.Arg385His
NM_000284.4:c.1133G>A MANE Select	NP_000275.1:p.Arg378His
NM_001173454.2:c.1247G>A	NP_001166925.1:p.Arg416His
NM_001173455.2:c.1154G>A	NP_001166926.1:p.Arg385His
NM_001173456.2:c.1040G>A	NP_001166927.1:p.Arg347His