Canonical Allele Identifier: CA402364296

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46086419C>T , CM000680.2:g.46086419C>T	GRCh38
NC_000018.9:g.43666385C>T , CM000680.1:g.43666385C>T	GRCh37
NC_000018.8:g.41920383C>T	NCBI36
NG_041769.1:g.22815G>A
NG_041769.2:g.27815G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004046.6:c.1252G>A MANE Select	NP_004037.1:p.Gly418Arg
ENST00000398752.11:c.1252G>A MANE Select	ENSP00000381736.5:p.Gly418Arg
NM_001001935.2:c.1102G>A	NP_001001935.1:p.Gly368Arg
NM_001001935.3:c.1102G>A	NP_001001935.1:p.Gly368Arg
NM_001001937.1:c.1252G>A	NP_001001937.1:p.Gly418Arg
NM_001001937.2:c.1252G>A	NP_001001937.1:p.Gly418Arg
NM_001257334.1:c.1186G>A	NP_001244263.1:p.Gly396Arg
NM_001257334.2:c.1186G>A	NP_001244263.1:p.Gly396Arg
NM_001257335.1:c.1102G>A	NP_001244264.1:p.Gly368Arg
NM_001257335.2:c.1102G>A	NP_001244264.1:p.Gly368Arg
NM_004046.5:c.1252G>A	NP_004037.1:p.Gly418Arg
ENST00000282050.6:c.1252G>A	ENSP00000282050.2:p.Gly418Arg
ENST00000398752.10:c.1252G>A	ENSP00000381736.5:p.Gly418Arg
ENST00000586523.1:n.2278G>A
ENST00000586592.5:c.*1315G>A	ENSP00000466275.3:n.*1315G>A
ENST00000587902.1:n.166G>A
ENST00000590156.5:c.*1148G>A	ENSP00000466309.1:n.*1148G>A
ENST00000590665.5:c.1186G>A	ENSP00000467037.1:p.Gly396Arg
ENST00000592364.5:c.*125G>A	ENSP00000468618.1:n.*125G>A
ENST00000593152.6:c.1102G>A	ENSP00000465477.2:p.Gly368Arg
XM_011526018.1:c.1102G>A	XP_011524320.1:p.Gly368Arg
XM_017025789.1:c.1252G>A	XP_016881278.1:p.Gly418Arg