Canonical Allele Identifier: CA8950859

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46091742G>C , CM000680.2:g.46091742G>C	GRCh38
NC_000018.9:g.43671708G>C , CM000680.1:g.43671708G>C	GRCh37
NC_000018.8:g.41925706G>C	NCBI36
NG_041769.1:g.17492C>G
NG_041769.2:g.22492C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004046.6:c.249C>G MANE Select	NP_004037.1:p.Arg83=
ENST00000398752.11:c.249C>G MANE Select	ENSP00000381736.5:p.Arg83=
NM_001001935.2:c.99C>G	NP_001001935.1:p.Arg33=
NM_001001935.3:c.99C>G	NP_001001935.1:p.Arg33=
NM_001001937.1:c.249C>G	NP_001001937.1:p.Arg83=
NM_001001937.2:c.249C>G	NP_001001937.1:p.Arg83=
NM_001257334.1:c.249C>G	NP_001244263.1:p.Arg83=
NM_001257334.2:c.249C>G	NP_001244263.1:p.Arg83=
NM_001257335.1:c.99C>G	NP_001244264.1:p.Arg33=
NM_001257335.2:c.99C>G	NP_001244264.1:p.Arg33=
NM_004046.5:c.249C>G	NP_004037.1:p.Arg83=
ENST00000282050.6:c.249C>G	ENSP00000282050.2:p.Arg83=
ENST00000398752.10:c.249C>G	ENSP00000381736.5:p.Arg83=
ENST00000585650.1:c.*173C>G	ENSP00000467983.1:n.*173C>G
ENST00000586592.5:c.*312C>G	ENSP00000466275.3:n.*312C>G
ENST00000589252.5:c.140-1843C>G	ENSP00000466975.1:n.140-1843C>G
ENST00000589611.1:n.457C>G
ENST00000589869.5:c.99C>G	ENSP00000465497.1:p.Arg33=
ENST00000590156.5:c.*145C>G	ENSP00000466309.1:n.*145C>G
ENST00000590324.5:c.99C>G	ENSP00000465259.1:p.Arg33=
ENST00000590406.5:c.249C>G	ENSP00000468458.1:p.Arg83=
ENST00000590448.5:n.306C>G
ENST00000590665.5:c.249C>G	ENSP00000467037.1:p.Arg83=
ENST00000591981.5:c.*130C>G	ENSP00000465805.2:n.*130C>G
ENST00000592364.5:c.226+23C>G	ENSP00000468618.1:n.226+23C>G
ENST00000592989.1:c.99C>G	ENSP00000467830.1:p.Arg33=
ENST00000593152.6:c.99C>G	ENSP00000465477.2:p.Arg33=
XM_011526018.1:c.99C>G	XP_011524320.1:p.Arg33=
XM_017025789.1:c.249C>G	XP_016881278.1:p.Arg83=