Canonical Allele Identifier: CA412396081

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377049A>T (hg19) ; chrX:g.19358931A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358931A>T , CM000685.2:g.19358931A>T	GRCh38
NC_000023.10:g.19377049A>T , CM000685.1:g.19377049A>T	GRCh37
NC_000023.9:g.19286970A>T	NCBI36
NG_016781.1:g.20039A>T
NG_021184.1:g.161331T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.936A>T	ENSP00000348062.6:p.Glu312Asp
ENST00000379805.4:c.*607A>T	ENSP00000369133.3:n.*607A>T
ENST00000417819.6:c.999A>T	ENSP00000404616.2:p.Glu333Asp
ENST00000423505.6:c.1029A>T	ENSP00000406473.2:p.Glu343Asp
ENST00000481733.2:n.710A>T
ENST00000696704.1:c.*247A>T	ENSP00000512823.1:n.*247A>T
ENST00000696705.1:c.*370A>T	ENSP00000512824.1:n.*370A>T
ENST00000422285.7:c.915A>T MANE Select	ENSP00000394382.2:p.Glu305Asp
ENST00000379804.1:c.72A>T	ENSP00000369132.1:p.Glu24Asp
ENST00000379806.9:c.1029A>T	ENSP00000369134.5:p.Glu343Asp
ENST00000422285.6:c.915A>T	ENSP00000394382.2:p.Glu305Asp
ENST00000478795.1:n.354A>T
ENST00000481733.1:n.343A>T
ENST00000540249.5:c.822A>T	ENSP00000440761.1:p.Glu274Asp
ENST00000545074.5:c.936A>T	ENSP00000438550.1:p.Glu312Asp
NM_000284.3:c.915A>T	NP_000275.1:p.Glu305Asp
NM_001173454.1:c.1029A>T	NP_001166925.1:p.Glu343Asp
NM_001173455.1:c.936A>T	NP_001166926.1:p.Glu312Asp
NM_001173456.1:c.822A>T	NP_001166927.1:p.Glu274Asp
XM_011545531.1:c.1050A>T	XP_011543833.1:p.Glu350Asp
XM_011545532.1:c.957A>T	XP_011543834.1:p.Glu319Asp
XM_017029574.2:c.936A>T	XP_016885063.1:p.Glu312Asp
NM_000284.4:c.915A>T MANE Select	NP_000275.1:p.Glu305Asp
NM_001173454.2:c.1029A>T	NP_001166925.1:p.Glu343Asp
NM_001173455.2:c.936A>T	NP_001166926.1:p.Glu312Asp
NM_001173456.2:c.822A>T	NP_001166927.1:p.Glu274Asp