Canonical Allele Identifier: CA412394670

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373607C>A (hg19) ; chrX:g.19355489C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355489C>A , CM000685.2:g.19355489C>A	GRCh38
NC_000023.10:g.19373607C>A , CM000685.1:g.19373607C>A	GRCh37
NC_000023.9:g.19283528C>A	NCBI36
NG_016781.1:g.16597C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.765C>A	ENSP00000348062.6:p.Phe255Leu
ENST00000379805.4:c.*436C>A	ENSP00000369133.3:n.*436C>A
ENST00000417819.6:c.828C>A	ENSP00000404616.2:p.Phe276Leu
ENST00000423505.6:c.858C>A	ENSP00000406473.2:p.Phe286Leu
ENST00000481733.2:n.539C>A
ENST00000696704.1:c.*76C>A	ENSP00000512823.1:n.*76C>A
ENST00000696705.1:c.*199C>A	ENSP00000512824.1:n.*199C>A
ENST00000422285.7:c.744C>A MANE Select	ENSP00000394382.2:p.Phe248Leu
ENST00000379806.9:c.858C>A	ENSP00000369134.5:p.Phe286Leu
ENST00000422285.6:c.744C>A	ENSP00000394382.2:p.Phe248Leu
ENST00000481733.1:n.172C>A
ENST00000540249.5:c.651C>A	ENSP00000440761.1:p.Phe217Leu
ENST00000545074.5:c.765C>A	ENSP00000438550.1:p.Phe255Leu
NM_000284.3:c.744C>A	NP_000275.1:p.Phe248Leu
NM_001173454.1:c.858C>A	NP_001166925.1:p.Phe286Leu
NM_001173455.1:c.765C>A	NP_001166926.1:p.Phe255Leu
NM_001173456.1:c.651C>A	NP_001166927.1:p.Phe217Leu
XM_011545531.1:c.879C>A	XP_011543833.1:p.Phe293Leu
XM_011545532.1:c.786C>A	XP_011543834.1:p.Phe262Leu
XM_017029574.2:c.765C>A	XP_016885063.1:p.Phe255Leu
NM_000284.4:c.744C>A MANE Select	NP_000275.1:p.Phe248Leu
NM_001173454.2:c.858C>A	NP_001166925.1:p.Phe286Leu
NM_001173455.2:c.765C>A	NP_001166926.1:p.Phe255Leu
NM_001173456.2:c.651C>A	NP_001166927.1:p.Phe217Leu