Canonical Allele Identifier: CA412396130

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377068A>T (hg19) ; chrX:g.19358950A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358950A>T , CM000685.2:g.19358950A>T	GRCh38
NC_000023.10:g.19377068A>T , CM000685.1:g.19377068A>T	GRCh37
NC_000023.9:g.19286989A>T	NCBI36
NG_016781.1:g.20058A>T
NG_021184.1:g.161312T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.955A>T	ENSP00000348062.6:p.Ser319Cys
ENST00000379805.4:c.*626A>T	ENSP00000369133.3:n.*626A>T
ENST00000417819.6:c.1018A>T	ENSP00000404616.2:p.Ser340Cys
ENST00000423505.6:c.1048A>T	ENSP00000406473.2:p.Ser350Cys
ENST00000481733.2:n.729A>T
ENST00000696704.1:c.*266A>T	ENSP00000512823.1:n.*266A>T
ENST00000696705.1:c.*389A>T	ENSP00000512824.1:n.*389A>T
ENST00000422285.7:c.934A>T MANE Select	ENSP00000394382.2:p.Ser312Cys
ENST00000379804.1:c.91A>T	ENSP00000369132.1:p.Ser31Cys
ENST00000379806.9:c.1048A>T	ENSP00000369134.5:p.Ser350Cys
ENST00000422285.6:c.934A>T	ENSP00000394382.2:p.Ser312Cys
ENST00000478795.1:n.373A>T
ENST00000481733.1:n.362A>T
ENST00000540249.5:c.841A>T	ENSP00000440761.1:p.Ser281Cys
ENST00000545074.5:c.955A>T	ENSP00000438550.1:p.Ser319Cys
NM_000284.3:c.934A>T	NP_000275.1:p.Ser312Cys
NM_001173454.1:c.1048A>T	NP_001166925.1:p.Ser350Cys
NM_001173455.1:c.955A>T	NP_001166926.1:p.Ser319Cys
NM_001173456.1:c.841A>T	NP_001166927.1:p.Ser281Cys
XM_011545531.1:c.1069A>T	XP_011543833.1:p.Ser357Cys
XM_011545532.1:c.976A>T	XP_011543834.1:p.Ser326Cys
XM_017029574.2:c.955A>T	XP_016885063.1:p.Ser319Cys
NM_000284.4:c.934A>T MANE Select	NP_000275.1:p.Ser312Cys
NM_001173454.2:c.1048A>T	NP_001166925.1:p.Ser350Cys
NM_001173455.2:c.955A>T	NP_001166926.1:p.Ser319Cys
NM_001173456.2:c.841A>T	NP_001166927.1:p.Ser281Cys