Canonical Allele Identifier: CA412396299

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359022-A-G
• MyVariant Identifiers: chrX:g.19377140A>G (hg19) ; chrX:g.19359022A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359022A>G , CM000685.2:g.19359022A>G	GRCh38
NC_000023.10:g.19377140A>G , CM000685.1:g.19377140A>G	GRCh37
NC_000023.9:g.19287061A>G	NCBI36
NG_016781.1:g.20130A>G
NG_021184.1:g.161240T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1027A>G	ENSP00000348062.6:p.Lys343Glu
ENST00000379805.4:c.*698A>G	ENSP00000369133.3:n.*698A>G
ENST00000417819.6:c.1090A>G	ENSP00000404616.2:p.Lys364Glu
ENST00000423505.6:c.1120A>G	ENSP00000406473.2:p.Lys374Glu
ENST00000481733.2:n.801A>G
ENST00000696704.1:c.*338A>G	ENSP00000512823.1:n.*338A>G
ENST00000696705.1:c.*461A>G	ENSP00000512824.1:n.*461A>G
ENST00000422285.7:c.1006A>G MANE Select	ENSP00000394382.2:p.Lys336Glu
ENST00000379804.1:c.163A>G	ENSP00000369132.1:p.Lys55Glu
ENST00000379806.9:c.1120A>G	ENSP00000369134.5:p.Lys374Glu
ENST00000422285.6:c.1006A>G	ENSP00000394382.2:p.Lys336Glu
ENST00000478795.1:n.445A>G
ENST00000481733.1:n.434A>G
ENST00000540249.5:c.913A>G	ENSP00000440761.1:p.Lys305Glu
ENST00000545074.5:c.1027A>G	ENSP00000438550.1:p.Lys343Glu
NM_000284.3:c.1006A>G	NP_000275.1:p.Lys336Glu
NM_001173454.1:c.1120A>G	NP_001166925.1:p.Lys374Glu
NM_001173455.1:c.1027A>G	NP_001166926.1:p.Lys343Glu
NM_001173456.1:c.913A>G	NP_001166927.1:p.Lys305Glu
XM_011545531.1:c.1141A>G	XP_011543833.1:p.Lys381Glu
XM_011545532.1:c.1048A>G	XP_011543834.1:p.Lys350Glu
XM_017029574.2:c.1027A>G	XP_016885063.1:p.Lys343Glu
NM_000284.4:c.1006A>G MANE Select	NP_000275.1:p.Lys336Glu
NM_001173454.2:c.1120A>G	NP_001166925.1:p.Lys374Glu
NM_001173455.2:c.1027A>G	NP_001166926.1:p.Lys343Glu
NM_001173456.2:c.913A>G	NP_001166927.1:p.Lys305Glu