Canonical Allele Identifier: CA503984701
Gene: ATP5F1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.43667307C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46087341C>T , CM000680.2:g.46087341C>T GRCh38
NC_000018.9:g.43667307C>T , CM000680.1:g.43667307C>T GRCh37
NC_000018.8:g.41921305C>T NCBI36
NG_041769.1:g.21893G>A
NG_041769.2:g.26893G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000398752.11:c.951G>A MANE Select ENSP00000381736.5:p.Gln317=
ENST00000282050.6:c.951G>A ENSP00000282050.2:p.Gln317=
ENST00000398752.10:c.951G>A ENSP00000381736.5:p.Gln317=
ENST00000586523.1:n.1356G>A
ENST00000586592.5:c.*1014G>A ENSP00000466275.3:n.*1014G>A
ENST00000590156.5:c.*847G>A ENSP00000466309.1:n.*847G>A
ENST00000590665.5:c.885G>A ENSP00000467037.1:p.Gln295=
ENST00000592364.5:c.227-277G>A ENSP00000468618.1:n.227-277G>A
ENST00000593152.6:c.801G>A ENSP00000465477.2:p.Gln267=
NM_001001935.2:c.801G>A NP_001001935.1:p.Gln267=
NM_001001937.1:c.951G>A NP_001001937.1:p.Gln317=
NM_001257334.1:c.885G>A NP_001244263.1:p.Gln295=
NM_001257335.1:c.801G>A NP_001244264.1:p.Gln267=
NM_004046.5:c.951G>A NP_004037.1:p.Gln317=
XM_011526018.1:c.801G>A XP_011524320.1:p.Gln267=
XM_017025789.1:c.951G>A XP_016881278.1:p.Gln317=
NM_004046.6:c.951G>A MANE Select NP_004037.1:p.Gln317=
NM_001001935.3:c.801G>A NP_001001935.1:p.Gln267=
NM_001257334.2:c.885G>A NP_001244263.1:p.Gln295=
NM_001001937.2:c.951G>A NP_001001937.1:p.Gln317=
NM_001257335.2:c.801G>A NP_001244264.1:p.Gln267=