Canonical Allele Identifier: CA412396076

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377048A>C (hg19) ; chrX:g.19358930A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358930A>C , CM000685.2:g.19358930A>C	GRCh38
NC_000023.10:g.19377048A>C , CM000685.1:g.19377048A>C	GRCh37
NC_000023.9:g.19286969A>C	NCBI36
NG_016781.1:g.20038A>C
NG_021184.1:g.161332T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.935A>C	ENSP00000348062.6:p.Glu312Ala
ENST00000379805.4:c.*606A>C	ENSP00000369133.3:n.*606A>C
ENST00000417819.6:c.998A>C	ENSP00000404616.2:p.Glu333Ala
ENST00000423505.6:c.1028A>C	ENSP00000406473.2:p.Glu343Ala
ENST00000481733.2:n.709A>C
ENST00000696704.1:c.*246A>C	ENSP00000512823.1:n.*246A>C
ENST00000696705.1:c.*369A>C	ENSP00000512824.1:n.*369A>C
ENST00000422285.7:c.914A>C MANE Select	ENSP00000394382.2:p.Glu305Ala
ENST00000379804.1:c.71A>C	ENSP00000369132.1:p.Glu24Ala
ENST00000379806.9:c.1028A>C	ENSP00000369134.5:p.Glu343Ala
ENST00000422285.6:c.914A>C	ENSP00000394382.2:p.Glu305Ala
ENST00000478795.1:n.353A>C
ENST00000481733.1:n.342A>C
ENST00000540249.5:c.821A>C	ENSP00000440761.1:p.Glu274Ala
ENST00000545074.5:c.935A>C	ENSP00000438550.1:p.Glu312Ala
NM_000284.3:c.914A>C	NP_000275.1:p.Glu305Ala
NM_001173454.1:c.1028A>C	NP_001166925.1:p.Glu343Ala
NM_001173455.1:c.935A>C	NP_001166926.1:p.Glu312Ala
NM_001173456.1:c.821A>C	NP_001166927.1:p.Glu274Ala
XM_011545531.1:c.1049A>C	XP_011543833.1:p.Glu350Ala
XM_011545532.1:c.956A>C	XP_011543834.1:p.Glu319Ala
XM_017029574.2:c.935A>C	XP_016885063.1:p.Glu312Ala
NM_000284.4:c.914A>C MANE Select	NP_000275.1:p.Glu305Ala
NM_001173454.2:c.1028A>C	NP_001166925.1:p.Glu343Ala
NM_001173455.2:c.935A>C	NP_001166926.1:p.Glu312Ala
NM_001173456.2:c.821A>C	NP_001166927.1:p.Glu274Ala