Canonical Allele Identifier: CA412395201

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 935969
• ClinVar RCV Id: RCV001204675
• dbSNP Id: rs2063213272
• MyVariant Identifiers: chrX:g.19375800C>T (hg19) ; chrX:g.19357682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357682C>T , CM000685.2:g.19357682C>T	GRCh38
NC_000023.10:g.19375800C>T , CM000685.1:g.19375800C>T	GRCh37
NC_000023.9:g.19285721C>T	NCBI36
NG_016781.1:g.18790C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.883C>T	ENSP00000348062.6:p.Arg295Cys
ENST00000379805.4:c.*554C>T	ENSP00000369133.3:n.*554C>T
ENST00000417819.6:c.946C>T	ENSP00000404616.2:p.Arg316Cys
ENST00000423505.6:c.976C>T	ENSP00000406473.2:p.Arg326Cys
ENST00000481733.2:n.657C>T
ENST00000696704.1:c.*194C>T	ENSP00000512823.1:n.*194C>T
ENST00000696705.1:c.*317C>T	ENSP00000512824.1:n.*317C>T
ENST00000422285.7:c.862C>T MANE Select	ENSP00000394382.2:p.Arg288Cys
ENST00000379804.1:c.19C>T	ENSP00000369132.1:p.Arg7Cys
ENST00000379806.9:c.976C>T	ENSP00000369134.5:p.Arg326Cys
ENST00000422285.6:c.862C>T	ENSP00000394382.2:p.Arg288Cys
ENST00000478795.1:n.301C>T
ENST00000481733.1:n.290C>T
ENST00000540249.5:c.769C>T	ENSP00000440761.1:p.Arg257Cys
ENST00000545074.5:c.883C>T	ENSP00000438550.1:p.Arg295Cys
NM_000284.3:c.862C>T	NP_000275.1:p.Arg288Cys
NM_001173454.1:c.976C>T	NP_001166925.1:p.Arg326Cys
NM_001173455.1:c.883C>T	NP_001166926.1:p.Arg295Cys
NM_001173456.1:c.769C>T	NP_001166927.1:p.Arg257Cys
XM_011545531.1:c.997C>T	XP_011543833.1:p.Arg333Cys
XM_011545532.1:c.904C>T	XP_011543834.1:p.Arg302Cys
XM_017029574.2:c.883C>T	XP_016885063.1:p.Arg295Cys
NM_000284.4:c.862C>T MANE Select	NP_000275.1:p.Arg288Cys
NM_001173454.2:c.976C>T	NP_001166925.1:p.Arg326Cys
NM_001173455.2:c.883C>T	NP_001166926.1:p.Arg295Cys
NM_001173456.2:c.769C>T	NP_001166927.1:p.Arg257Cys