Canonical Allele Identifier: CA8950879

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46091857G>A , CM000680.2:g.46091857G>A	GRCh38
NC_000018.9:g.43671823G>A , CM000680.1:g.43671823G>A	GRCh37
NC_000018.8:g.41925821G>A	NCBI36
NG_041769.1:g.17377C>T
NG_041769.2:g.22377C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004046.6:c.140-6C>T MANE Select	NP_004037.1:n.140-6C>T
ENST00000398752.11:c.140-6C>T MANE Select	ENSP00000381736.5:n.140-6C>T
NM_001001935.2:c.-11-6C>T	NP_001001935.1:n.-11-6C>T
NM_001001935.3:c.-11-6C>T	NP_001001935.1:n.-11-6C>T
NM_001001937.1:c.140-6C>T	NP_001001937.1:n.140-6C>T
NM_001001937.2:c.140-6C>T	NP_001001937.1:n.140-6C>T
NM_001257334.1:c.140-6C>T	NP_001244263.1:n.140-6C>T
NM_001257334.2:c.140-6C>T	NP_001244263.1:n.140-6C>T
NM_001257335.1:c.-11-6C>T	NP_001244264.1:n.-11-6C>T
NM_001257335.2:c.-11-6C>T	NP_001244264.1:n.-11-6C>T
NM_004046.5:c.140-6C>T	NP_004037.1:n.140-6C>T
ENST00000282050.6:c.140-6C>T	ENSP00000282050.2:n.140-6C>T
ENST00000398752.10:c.140-6C>T	ENSP00000381736.5:n.140-6C>T
ENST00000585650.1:c.*64-6C>T	ENSP00000467983.1:n.*64-6C>T
ENST00000586592.5:c.*203-6C>T	ENSP00000466275.3:n.*203-6C>T
ENST00000589252.5:c.140-1958C>T	ENSP00000466975.1:n.140-1958C>T
ENST00000589611.1:n.342C>T
ENST00000589869.5:c.-11-6C>T	ENSP00000465497.1:n.-11-6C>T
ENST00000590156.5:c.*36-6C>T	ENSP00000466309.1:n.*36-6C>T
ENST00000590324.5:c.-11-6C>T	ENSP00000465259.1:n.-11-6C>T
ENST00000590406.5:c.140-6C>T	ENSP00000468458.1:n.140-6C>T
ENST00000590448.5:n.197-6C>T
ENST00000590665.5:c.140-6C>T	ENSP00000467037.1:n.140-6C>T
ENST00000591981.5:c.*21-6C>T	ENSP00000465805.2:n.*21-6C>T
ENST00000592364.5:c.140-6C>T	ENSP00000468618.1:n.140-6C>T
ENST00000592989.1:c.-11-6C>T	ENSP00000467830.1:n.-11-6C>T
ENST00000593152.6:c.-11-6C>T	ENSP00000465477.2:n.-11-6C>T
XM_011526018.1:c.-11-6C>T	XP_011524320.1:n.-11-6C>T
XM_017025789.1:c.140-6C>T	XP_016881278.1:n.140-6C>T