Canonical Allele Identifier: CA8950867

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46091800G>C , CM000680.2:g.46091800G>C	GRCh38
NC_000018.9:g.43671766G>C , CM000680.1:g.43671766G>C	GRCh37
NC_000018.8:g.41925764G>C	NCBI36
NG_041769.1:g.17434C>G
NG_041769.2:g.22434C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.191C>G MANE Select	ENSP00000381736.5:p.Thr64Ser
ENST00000282050.6:c.191C>G	ENSP00000282050.2:p.Thr64Ser
ENST00000398752.10:c.191C>G	ENSP00000381736.5:p.Thr64Ser
ENST00000585650.1:c.*115C>G	ENSP00000467983.1:n.*115C>G
ENST00000586592.5:c.*254C>G	ENSP00000466275.3:n.*254C>G
ENST00000589252.5:c.140-1901C>G	ENSP00000466975.1:n.140-1901C>G
ENST00000589611.1:n.399C>G
ENST00000589869.5:c.41C>G	ENSP00000465497.1:p.Thr14Ser
ENST00000590156.5:c.*87C>G	ENSP00000466309.1:n.*87C>G
ENST00000590324.5:c.41C>G	ENSP00000465259.1:p.Thr14Ser
ENST00000590406.5:c.191C>G	ENSP00000468458.1:p.Thr64Ser
ENST00000590448.5:n.248C>G
ENST00000590665.5:c.191C>G	ENSP00000467037.1:p.Thr64Ser
ENST00000591981.5:c.*72C>G	ENSP00000465805.2:n.*72C>G
ENST00000592364.5:c.191C>G	ENSP00000468618.1:p.Thr64Ser
ENST00000592989.1:c.41C>G	ENSP00000467830.1:p.Thr14Ser
ENST00000593152.6:c.41C>G	ENSP00000465477.2:p.Thr14Ser
NM_001001935.2:c.41C>G	NP_001001935.1:p.Thr14Ser
NM_001001937.1:c.191C>G	NP_001001937.1:p.Thr64Ser
NM_001257334.1:c.191C>G	NP_001244263.1:p.Thr64Ser
NM_001257335.1:c.41C>G	NP_001244264.1:p.Thr14Ser
NM_004046.5:c.191C>G	NP_004037.1:p.Thr64Ser
XM_011526018.1:c.41C>G	XP_011524320.1:p.Thr14Ser
XM_017025789.1:c.191C>G	XP_016881278.1:p.Thr64Ser
NM_004046.6:c.191C>G MANE Select	NP_004037.1:p.Thr64Ser
NM_001001935.3:c.41C>G	NP_001001935.1:p.Thr14Ser
NM_001257334.2:c.191C>G	NP_001244263.1:p.Thr64Ser
NM_001001937.2:c.191C>G	NP_001001937.1:p.Thr64Ser
NM_001257335.2:c.41C>G	NP_001244264.1:p.Thr14Ser