Canonical Allele Identifier: CA503985070
Gene: ATP5F1A HGNC NCBI

Linked Data

dbSNP Id: rs763102405
MyVariant Identifiers: chr18:g.43667424C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46087458C>A , CM000680.2:g.46087458C>A GRCh38
NC_000018.9:g.43667424C>A , CM000680.1:g.43667424C>A GRCh37
NC_000018.8:g.41921422C>A NCBI36
NG_041769.1:g.21776G>T
NG_041769.2:g.26776G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000398752.11:c.834G>T MANE Select ENSP00000381736.5:p.Thr278=
ENST00000282050.6:c.834G>T ENSP00000282050.2:p.Thr278=
ENST00000398752.10:c.834G>T ENSP00000381736.5:p.Thr278=
ENST00000586523.1:n.1239G>T
ENST00000586592.5:c.*897G>T ENSP00000466275.3:n.*897G>T
ENST00000589252.5:c.567G>T ENSP00000466975.1:p.Thr189=
ENST00000590156.5:c.*730G>T ENSP00000466309.1:n.*730G>T
ENST00000590665.5:c.768G>T ENSP00000467037.1:p.Thr256=
ENST00000592364.5:c.227-394G>T ENSP00000468618.1:n.227-394G>T
ENST00000593152.6:c.684G>T ENSP00000465477.2:p.Thr228=
NM_001001935.2:c.684G>T NP_001001935.1:p.Thr228=
NM_001001937.1:c.834G>T NP_001001937.1:p.Thr278=
NM_001257334.1:c.768G>T NP_001244263.1:p.Thr256=
NM_001257335.1:c.684G>T NP_001244264.1:p.Thr228=
NM_004046.5:c.834G>T NP_004037.1:p.Thr278=
XM_011526018.1:c.684G>T XP_011524320.1:p.Thr228=
XM_017025789.1:c.834G>T XP_016881278.1:p.Thr278=
NM_004046.6:c.834G>T MANE Select NP_004037.1:p.Thr278=
NM_001001935.3:c.684G>T NP_001001935.1:p.Thr228=
NM_001257334.2:c.768G>T NP_001244263.1:p.Thr256=
NM_001001937.2:c.834G>T NP_001001937.1:p.Thr278=
NM_001257335.2:c.684G>T NP_001244264.1:p.Thr228=