Canonical Allele Identifier: CA402356999

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46089575C>T , CM000680.2:g.46089575C>T	GRCh38
NC_000018.9:g.43669541C>T , CM000680.1:g.43669541C>T	GRCh37
NC_000018.8:g.41923539C>T	NCBI36
NG_041769.1:g.19659G>A
NG_041769.2:g.24659G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004046.6:c.641G>A MANE Select	NP_004037.1:p.Arg214Gln
ENST00000398752.11:c.641G>A MANE Select	ENSP00000381736.5:p.Arg214Gln
NM_001001935.2:c.491G>A	NP_001001935.1:p.Arg164Gln
NM_001001935.3:c.491G>A	NP_001001935.1:p.Arg164Gln
NM_001001937.1:c.641G>A	NP_001001937.1:p.Arg214Gln
NM_001001937.2:c.641G>A	NP_001001937.1:p.Arg214Gln
NM_001257334.1:c.575G>A	NP_001244263.1:p.Arg192Gln
NM_001257334.2:c.575G>A	NP_001244263.1:p.Arg192Gln
NM_001257335.1:c.491G>A	NP_001244264.1:p.Arg164Gln
NM_001257335.2:c.491G>A	NP_001244264.1:p.Arg164Gln
NM_004046.5:c.641G>A	NP_004037.1:p.Arg214Gln
ENST00000282050.6:c.641G>A	ENSP00000282050.2:p.Arg214Gln
ENST00000398752.10:c.641G>A	ENSP00000381736.5:p.Arg214Gln
ENST00000586592.5:c.*704G>A	ENSP00000466275.3:n.*704G>A
ENST00000589252.5:c.374G>A	ENSP00000466975.1:p.Arg125Gln
ENST00000589611.1:n.849G>A
ENST00000589869.5:c.491G>A	ENSP00000465497.1:p.Arg164Gln
ENST00000590156.5:c.*537G>A	ENSP00000466309.1:n.*537G>A
ENST00000590665.5:c.575G>A	ENSP00000467037.1:p.Arg192Gln
ENST00000592364.5:c.226+2190G>A	ENSP00000468618.1:n.226+2190G>A
ENST00000593152.6:c.491G>A	ENSP00000465477.2:p.Arg164Gln
XM_011526018.1:c.491G>A	XP_011524320.1:p.Arg164Gln
XM_017025789.1:c.641G>A	XP_016881278.1:p.Arg214Gln