Canonical Allele Identifier: CA8950925

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46095080C>T , CM000680.2:g.46095080C>T	GRCh38
NC_000018.9:g.43675046C>T , CM000680.1:g.43675046C>T	GRCh37
NC_000018.8:g.41929044C>T	NCBI36
NG_041769.1:g.14154G>A
NG_041769.2:g.19154G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.112G>A MANE Select	ENSP00000381736.5:p.Ala38Thr
ENST00000282050.6:c.112G>A	ENSP00000282050.2:p.Ala38Thr
ENST00000398752.10:c.112G>A	ENSP00000381736.5:p.Ala38Thr
ENST00000585650.1:c.90G>A	ENSP00000467983.1:p.Met30Ile
ENST00000586592.5:c.*175G>A	ENSP00000466275.3:n.*175G>A
ENST00000588390.1:n.176G>A
ENST00000589252.5:c.112G>A	ENSP00000466975.1:p.Ala38Thr
ENST00000589869.5:c.-39G>A	ENSP00000465497.1:n.-39G>A
ENST00000590156.5:c.112G>A	ENSP00000466309.1:p.Ala38Thr
ENST00000590324.5:c.-225G>A	ENSP00000465259.1:n.-225G>A
ENST00000590406.5:c.112G>A	ENSP00000468458.1:p.Ala38Thr
ENST00000590448.5:n.169G>A
ENST00000590665.5:c.112G>A	ENSP00000467037.1:p.Ala38Thr
ENST00000591267.1:n.177G>A
ENST00000591981.5:c.128G>A	ENSP00000465805.2:p.Cys43Tyr
ENST00000592364.5:c.112G>A	ENSP00000468618.1:p.Ala38Thr
ENST00000592989.1:c.-39G>A	ENSP00000467830.1:n.-39G>A
ENST00000593152.6:c.-39G>A	ENSP00000465477.2:n.-39G>A
NM_001001935.2:c.-112G>A	NP_001001935.1:n.-112G>A
NM_001001937.1:c.112G>A	NP_001001937.1:p.Ala38Thr
NM_001257334.1:c.112G>A	NP_001244263.1:p.Ala38Thr
NM_001257335.1:c.-39G>A	NP_001244264.1:n.-39G>A
NM_004046.5:c.112G>A	NP_004037.1:p.Ala38Thr
XM_011526018.1:c.-39G>A	XP_011524320.1:n.-39G>A
XM_017025789.1:c.112G>A	XP_016881278.1:p.Ala38Thr
NM_004046.6:c.112G>A MANE Select	NP_004037.1:p.Ala38Thr
NM_001001935.3:c.-112G>A	NP_001001935.1:n.-112G>A
NM_001257334.2:c.112G>A	NP_001244263.1:p.Ala38Thr
NM_001001937.2:c.112G>A	NP_001001937.1:p.Ala38Thr
NM_001257335.2:c.-39G>A	NP_001244264.1:n.-39G>A