Canonical Allele Identifier: CA412396278

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359013-G-A
• MyVariant Identifiers: chrX:g.19377131G>A (hg19) ; chrX:g.19359013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359013G>A , CM000685.2:g.19359013G>A	GRCh38
NC_000023.10:g.19377131G>A , CM000685.1:g.19377131G>A	GRCh37
NC_000023.9:g.19287052G>A	NCBI36
NG_016781.1:g.20121G>A
NG_021184.1:g.161249C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1018G>A	ENSP00000348062.6:p.Glu340Lys
ENST00000379805.4:c.*689G>A	ENSP00000369133.3:n.*689G>A
ENST00000417819.6:c.1081G>A	ENSP00000404616.2:p.Glu361Lys
ENST00000423505.6:c.1111G>A	ENSP00000406473.2:p.Glu371Lys
ENST00000481733.2:n.792G>A
ENST00000696704.1:c.*329G>A	ENSP00000512823.1:n.*329G>A
ENST00000696705.1:c.*452G>A	ENSP00000512824.1:n.*452G>A
ENST00000422285.7:c.997G>A MANE Select	ENSP00000394382.2:p.Glu333Lys
ENST00000379804.1:c.154G>A	ENSP00000369132.1:p.Glu52Lys
ENST00000379806.9:c.1111G>A	ENSP00000369134.5:p.Glu371Lys
ENST00000422285.6:c.997G>A	ENSP00000394382.2:p.Glu333Lys
ENST00000478795.1:n.436G>A
ENST00000481733.1:n.425G>A
ENST00000540249.5:c.904G>A	ENSP00000440761.1:p.Glu302Lys
ENST00000545074.5:c.1018G>A	ENSP00000438550.1:p.Glu340Lys
NM_000284.3:c.997G>A	NP_000275.1:p.Glu333Lys
NM_001173454.1:c.1111G>A	NP_001166925.1:p.Glu371Lys
NM_001173455.1:c.1018G>A	NP_001166926.1:p.Glu340Lys
NM_001173456.1:c.904G>A	NP_001166927.1:p.Glu302Lys
XM_011545531.1:c.1132G>A	XP_011543833.1:p.Glu378Lys
XM_011545532.1:c.1039G>A	XP_011543834.1:p.Glu347Lys
XM_017029574.2:c.1018G>A	XP_016885063.1:p.Glu340Lys
NM_000284.4:c.997G>A MANE Select	NP_000275.1:p.Glu333Lys
NM_001173454.2:c.1111G>A	NP_001166925.1:p.Glu371Lys
NM_001173455.2:c.1018G>A	NP_001166926.1:p.Glu340Lys
NM_001173456.2:c.904G>A	NP_001166927.1:p.Glu302Lys