Canonical Allele Identifier: CA8950785

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46089712C>T , CM000680.2:g.46089712C>T	GRCh38
NC_000018.9:g.43669678C>T , CM000680.1:g.43669678C>T	GRCh37
NC_000018.8:g.41923676C>T	NCBI36
NG_041769.1:g.19522G>A
NG_041769.2:g.24522G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004046.6:c.504G>A MANE Select	NP_004037.1:p.Thr168=
ENST00000398752.11:c.504G>A MANE Select	ENSP00000381736.5:p.Thr168=
NM_001001935.2:c.354G>A	NP_001001935.1:p.Thr118=
NM_001001935.3:c.354G>A	NP_001001935.1:p.Thr118=
NM_001001937.1:c.504G>A	NP_001001937.1:p.Thr168=
NM_001001937.2:c.504G>A	NP_001001937.1:p.Thr168=
NM_001257334.1:c.438G>A	NP_001244263.1:p.Thr146=
NM_001257334.2:c.438G>A	NP_001244263.1:p.Thr146=
NM_001257335.1:c.354G>A	NP_001244264.1:p.Thr118=
NM_001257335.2:c.354G>A	NP_001244264.1:p.Thr118=
NM_004046.5:c.504G>A	NP_004037.1:p.Thr168=
ENST00000282050.6:c.504G>A	ENSP00000282050.2:p.Thr168=
ENST00000398752.10:c.504G>A	ENSP00000381736.5:p.Thr168=
ENST00000586592.5:c.*567G>A	ENSP00000466275.3:n.*567G>A
ENST00000589252.5:c.237G>A	ENSP00000466975.1:p.Thr79=
ENST00000589611.1:n.712G>A
ENST00000589869.5:c.354G>A	ENSP00000465497.1:p.Thr118=
ENST00000590156.5:c.*400G>A	ENSP00000466309.1:n.*400G>A
ENST00000590324.5:c.354G>A	ENSP00000465259.1:p.Thr118=
ENST00000590406.5:c.504G>A	ENSP00000468458.1:p.Thr168=
ENST00000590665.5:c.438G>A	ENSP00000467037.1:p.Thr146=
ENST00000592364.5:c.226+2053G>A	ENSP00000468618.1:n.226+2053G>A
ENST00000593152.6:c.354G>A	ENSP00000465477.2:p.Thr118=
XM_011526018.1:c.354G>A	XP_011524320.1:p.Thr118=
XM_017025789.1:c.504G>A	XP_016881278.1:p.Thr168=