Canonical Allele Identifier: CA402355156
Gene: ATP5F1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46087358C>A , CM000680.2:g.46087358C>A GRCh38
NC_000018.9:g.43667324C>A , CM000680.1:g.43667324C>A GRCh37
NC_000018.8:g.41921322C>A NCBI36
NG_041769.1:g.21876G>T
NG_041769.2:g.26876G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000398752.11:c.934G>T MANE Select ENSP00000381736.5:p.Asp312Tyr
ENST00000282050.6:c.934G>T ENSP00000282050.2:p.Asp312Tyr
ENST00000398752.10:c.934G>T ENSP00000381736.5:p.Asp312Tyr
ENST00000586523.1:n.1339G>T
ENST00000586592.5:c.*997G>T ENSP00000466275.3:n.*997G>T
ENST00000590156.5:c.*830G>T ENSP00000466309.1:n.*830G>T
ENST00000590665.5:c.868G>T ENSP00000467037.1:p.Asp290Tyr
ENST00000592364.5:c.227-294G>T ENSP00000468618.1:n.227-294G>T
ENST00000593152.6:c.784G>T ENSP00000465477.2:p.Asp262Tyr
NM_001001935.2:c.784G>T NP_001001935.1:p.Asp262Tyr
NM_001001937.1:c.934G>T NP_001001937.1:p.Asp312Tyr
NM_001257334.1:c.868G>T NP_001244263.1:p.Asp290Tyr
NM_001257335.1:c.784G>T NP_001244264.1:p.Asp262Tyr
NM_004046.5:c.934G>T NP_004037.1:p.Asp312Tyr
XM_011526018.1:c.784G>T XP_011524320.1:p.Asp262Tyr
XM_017025789.1:c.934G>T XP_016881278.1:p.Asp312Tyr
NM_004046.6:c.934G>T MANE Select NP_004037.1:p.Asp312Tyr
NM_001001935.3:c.784G>T NP_001001935.1:p.Asp262Tyr
NM_001257334.2:c.868G>T NP_001244263.1:p.Asp290Tyr
NM_001001937.2:c.934G>T NP_001001937.1:p.Asp312Tyr
NM_001257335.2:c.784G>T NP_001244264.1:p.Asp262Tyr