Canonical Allele Identifier: CA503985092
Gene: ATP5F1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.43667442G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46087476G>C , CM000680.2:g.46087476G>C GRCh38
NC_000018.9:g.43667442G>C , CM000680.1:g.43667442G>C GRCh37
NC_000018.8:g.41921440G>C NCBI36
NG_041769.1:g.21758C>G
NG_041769.2:g.26758C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000398752.11:c.816C>G MANE Select ENSP00000381736.5:p.Thr272=
ENST00000282050.6:c.816C>G ENSP00000282050.2:p.Thr272=
ENST00000398752.10:c.816C>G ENSP00000381736.5:p.Thr272=
ENST00000586523.1:n.1221C>G
ENST00000586592.5:c.*879C>G ENSP00000466275.3:n.*879C>G
ENST00000589252.5:c.549C>G ENSP00000466975.1:p.Thr183=
ENST00000590156.5:c.*712C>G ENSP00000466309.1:n.*712C>G
ENST00000590665.5:c.750C>G ENSP00000467037.1:p.Thr250=
ENST00000592364.5:c.227-412C>G ENSP00000468618.1:n.227-412C>G
ENST00000593152.6:c.666C>G ENSP00000465477.2:p.Thr222=
NM_001001935.2:c.666C>G NP_001001935.1:p.Thr222=
NM_001001937.1:c.816C>G NP_001001937.1:p.Thr272=
NM_001257334.1:c.750C>G NP_001244263.1:p.Thr250=
NM_001257335.1:c.666C>G NP_001244264.1:p.Thr222=
NM_004046.5:c.816C>G NP_004037.1:p.Thr272=
XM_011526018.1:c.666C>G XP_011524320.1:p.Thr222=
XM_017025789.1:c.816C>G XP_016881278.1:p.Thr272=
NM_004046.6:c.816C>G MANE Select NP_004037.1:p.Thr272=
NM_001001935.3:c.666C>G NP_001001935.1:p.Thr222=
NM_001257334.2:c.750C>G NP_001244263.1:p.Thr250=
NM_001001937.2:c.816C>G NP_001001937.1:p.Thr272=
NM_001257335.2:c.666C>G NP_001244264.1:p.Thr222=