Canonical Allele Identifier: CA412394385

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373501T>G (hg19) ; chrX:g.19355383T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355383T>G , CM000685.2:g.19355383T>G	GRCh38
NC_000023.10:g.19373501T>G , CM000685.1:g.19373501T>G	GRCh37
NC_000023.9:g.19283422T>G	NCBI36
NG_016781.1:g.16491T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.659T>G	ENSP00000348062.6:p.Leu220Trp
ENST00000379805.4:c.*330T>G	ENSP00000369133.3:n.*330T>G
ENST00000417819.6:c.722T>G	ENSP00000404616.2:p.Leu241Trp
ENST00000423505.6:c.752T>G	ENSP00000406473.2:p.Leu251Trp
ENST00000481733.2:n.433T>G
ENST00000696704.1:c.453T>G	ENSP00000512823.1:p.Phe151Leu
ENST00000696705.1:c.*93T>G	ENSP00000512824.1:n.*93T>G
ENST00000422285.7:c.638T>G MANE Select	ENSP00000394382.2:p.Leu213Trp
ENST00000379806.9:c.752T>G	ENSP00000369134.5:p.Leu251Trp
ENST00000422285.6:c.638T>G	ENSP00000394382.2:p.Leu213Trp
ENST00000479146.1:n.473T>G
ENST00000481733.1:n.66T>G
ENST00000540249.5:c.545T>G	ENSP00000440761.1:p.Leu182Trp
ENST00000545074.5:c.659T>G	ENSP00000438550.1:p.Leu220Trp
NM_000284.3:c.638T>G	NP_000275.1:p.Leu213Trp
NM_001173454.1:c.752T>G	NP_001166925.1:p.Leu251Trp
NM_001173455.1:c.659T>G	NP_001166926.1:p.Leu220Trp
NM_001173456.1:c.545T>G	NP_001166927.1:p.Leu182Trp
XM_011545531.1:c.773T>G	XP_011543833.1:p.Leu258Trp
XM_011545532.1:c.680T>G	XP_011543834.1:p.Leu227Trp
XM_017029574.2:c.659T>G	XP_016885063.1:p.Leu220Trp
NM_000284.4:c.638T>G MANE Select	NP_000275.1:p.Leu213Trp
NM_001173454.2:c.752T>G	NP_001166925.1:p.Leu251Trp
NM_001173455.2:c.659T>G	NP_001166926.1:p.Leu220Trp
NM_001173456.2:c.545T>G	NP_001166927.1:p.Leu182Trp