Canonical Allele Identifier: CA412395199

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375800C>A (hg19) ; chrX:g.19357682C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.883C>A	ENSP00000348062.6:p.Arg295Ser
ENST00000379805.4:c.*554C>A	ENSP00000369133.3:n.*554C>A
ENST00000417819.6:c.946C>A	ENSP00000404616.2:p.Arg316Ser
ENST00000423505.6:c.976C>A	ENSP00000406473.2:p.Arg326Ser
ENST00000481733.2:n.657C>A
ENST00000696704.1:c.*194C>A	ENSP00000512823.1:n.*194C>A
ENST00000696705.1:c.*317C>A	ENSP00000512824.1:n.*317C>A
ENST00000422285.7:c.862C>A MANE Select	ENSP00000394382.2:p.Arg288Ser
ENST00000379804.1:c.19C>A	ENSP00000369132.1:p.Arg7Ser
ENST00000379806.9:c.976C>A	ENSP00000369134.5:p.Arg326Ser
ENST00000422285.6:c.862C>A	ENSP00000394382.2:p.Arg288Ser
ENST00000478795.1:n.301C>A
ENST00000481733.1:n.290C>A
ENST00000540249.5:c.769C>A	ENSP00000440761.1:p.Arg257Ser
ENST00000545074.5:c.883C>A	ENSP00000438550.1:p.Arg295Ser
NM_000284.3:c.862C>A	NP_000275.1:p.Arg288Ser
NM_001173454.1:c.976C>A	NP_001166925.1:p.Arg326Ser
NM_001173455.1:c.883C>A	NP_001166926.1:p.Arg295Ser
NM_001173456.1:c.769C>A	NP_001166927.1:p.Arg257Ser
XM_011545531.1:c.997C>A	XP_011543833.1:p.Arg333Ser
XM_011545532.1:c.904C>A	XP_011543834.1:p.Arg302Ser
XM_017029574.2:c.883C>A	XP_016885063.1:p.Arg295Ser
NM_000284.4:c.862C>A MANE Select	NP_000275.1:p.Arg288Ser
NM_001173454.2:c.976C>A	NP_001166925.1:p.Arg326Ser
NM_001173455.2:c.883C>A	NP_001166926.1:p.Arg295Ser
NM_001173456.2:c.769C>A	NP_001166927.1:p.Arg257Ser