Canonical Allele Identifier: CA412396288

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377135A>C (hg19) ; chrX:g.19359017A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359017A>C , CM000685.2:g.19359017A>C	GRCh38
NC_000023.10:g.19377135A>C , CM000685.1:g.19377135A>C	GRCh37
NC_000023.9:g.19287056A>C	NCBI36
NG_016781.1:g.20125A>C
NG_021184.1:g.161245T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1022A>C	ENSP00000348062.6:p.Glu341Ala
ENST00000379805.4:c.*693A>C	ENSP00000369133.3:n.*693A>C
ENST00000417819.6:c.1085A>C	ENSP00000404616.2:p.Glu362Ala
ENST00000423505.6:c.1115A>C	ENSP00000406473.2:p.Glu372Ala
ENST00000481733.2:n.796A>C
ENST00000696704.1:c.*333A>C	ENSP00000512823.1:n.*333A>C
ENST00000696705.1:c.*456A>C	ENSP00000512824.1:n.*456A>C
ENST00000422285.7:c.1001A>C MANE Select	ENSP00000394382.2:p.Glu334Ala
ENST00000379804.1:c.158A>C	ENSP00000369132.1:p.Glu53Ala
ENST00000379806.9:c.1115A>C	ENSP00000369134.5:p.Glu372Ala
ENST00000422285.6:c.1001A>C	ENSP00000394382.2:p.Glu334Ala
ENST00000478795.1:n.440A>C
ENST00000481733.1:n.429A>C
ENST00000540249.5:c.908A>C	ENSP00000440761.1:p.Glu303Ala
ENST00000545074.5:c.1022A>C	ENSP00000438550.1:p.Glu341Ala
NM_000284.3:c.1001A>C	NP_000275.1:p.Glu334Ala
NM_001173454.1:c.1115A>C	NP_001166925.1:p.Glu372Ala
NM_001173455.1:c.1022A>C	NP_001166926.1:p.Glu341Ala
NM_001173456.1:c.908A>C	NP_001166927.1:p.Glu303Ala
XM_011545531.1:c.1136A>C	XP_011543833.1:p.Glu379Ala
XM_011545532.1:c.1043A>C	XP_011543834.1:p.Glu348Ala
XM_017029574.2:c.1022A>C	XP_016885063.1:p.Glu341Ala
NM_000284.4:c.1001A>C MANE Select	NP_000275.1:p.Glu334Ala
NM_001173454.2:c.1115A>C	NP_001166925.1:p.Glu372Ala
NM_001173455.2:c.1022A>C	NP_001166926.1:p.Glu341Ala
NM_001173456.2:c.908A>C	NP_001166927.1:p.Glu303Ala