Canonical Allele Identifier: CA412394474

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373523C>G (hg19) ; chrX:g.19355405C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355405C>G , CM000685.2:g.19355405C>G	GRCh38
NC_000023.10:g.19373523C>G , CM000685.1:g.19373523C>G	GRCh37
NC_000023.9:g.19283444C>G	NCBI36
NG_016781.1:g.16513C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.681C>G	ENSP00000348062.6:p.Phe227Leu
ENST00000379805.4:c.*352C>G	ENSP00000369133.3:n.*352C>G
ENST00000417819.6:c.744C>G	ENSP00000404616.2:p.Phe248Leu
ENST00000423505.6:c.774C>G	ENSP00000406473.2:p.Phe258Leu
ENST00000481733.2:n.455C>G
ENST00000696704.1:c.475C>G	ENSP00000512823.1:p.His159Asp
ENST00000696705.1:c.*115C>G	ENSP00000512824.1:n.*115C>G
ENST00000422285.7:c.660C>G MANE Select	ENSP00000394382.2:p.Phe220Leu
ENST00000379806.9:c.774C>G	ENSP00000369134.5:p.Phe258Leu
ENST00000422285.6:c.660C>G	ENSP00000394382.2:p.Phe220Leu
ENST00000479146.1:n.495C>G
ENST00000481733.1:n.88C>G
ENST00000540249.5:c.567C>G	ENSP00000440761.1:p.Phe189Leu
ENST00000545074.5:c.681C>G	ENSP00000438550.1:p.Phe227Leu
NM_000284.3:c.660C>G	NP_000275.1:p.Phe220Leu
NM_001173454.1:c.774C>G	NP_001166925.1:p.Phe258Leu
NM_001173455.1:c.681C>G	NP_001166926.1:p.Phe227Leu
NM_001173456.1:c.567C>G	NP_001166927.1:p.Phe189Leu
XM_011545531.1:c.795C>G	XP_011543833.1:p.Phe265Leu
XM_011545532.1:c.702C>G	XP_011543834.1:p.Phe234Leu
XM_017029574.2:c.681C>G	XP_016885063.1:p.Phe227Leu
NM_000284.4:c.660C>G MANE Select	NP_000275.1:p.Phe220Leu
NM_001173454.2:c.774C>G	NP_001166925.1:p.Phe258Leu
NM_001173455.2:c.681C>G	NP_001166926.1:p.Phe227Leu
NM_001173456.2:c.567C>G	NP_001166927.1:p.Phe189Leu