Canonical Allele Identifier: CA503984767
Gene: ATP5F1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.43667328G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46087362G>T , CM000680.2:g.46087362G>T GRCh38
NC_000018.9:g.43667328G>T , CM000680.1:g.43667328G>T GRCh37
NC_000018.8:g.41921326G>T NCBI36
NG_041769.1:g.21872C>A
NG_041769.2:g.26872C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000398752.11:c.930C>A MANE Select ENSP00000381736.5:p.Ile310=
ENST00000282050.6:c.930C>A ENSP00000282050.2:p.Ile310=
ENST00000398752.10:c.930C>A ENSP00000381736.5:p.Ile310=
ENST00000586523.1:n.1335C>A
ENST00000586592.5:c.*993C>A ENSP00000466275.3:n.*993C>A
ENST00000590156.5:c.*826C>A ENSP00000466309.1:n.*826C>A
ENST00000590665.5:c.864C>A ENSP00000467037.1:p.Ile288=
ENST00000592364.5:c.227-298C>A ENSP00000468618.1:n.227-298C>A
ENST00000593152.6:c.780C>A ENSP00000465477.2:p.Ile260=
NM_001001935.2:c.780C>A NP_001001935.1:p.Ile260=
NM_001001937.1:c.930C>A NP_001001937.1:p.Ile310=
NM_001257334.1:c.864C>A NP_001244263.1:p.Ile288=
NM_001257335.1:c.780C>A NP_001244264.1:p.Ile260=
NM_004046.5:c.930C>A NP_004037.1:p.Ile310=
XM_011526018.1:c.780C>A XP_011524320.1:p.Ile260=
XM_017025789.1:c.930C>A XP_016881278.1:p.Ile310=
NM_004046.6:c.930C>A MANE Select NP_004037.1:p.Ile310=
NM_001001935.3:c.780C>A NP_001001935.1:p.Ile260=
NM_001257334.2:c.864C>A NP_001244263.1:p.Ile288=
NM_001001937.2:c.930C>A NP_001001937.1:p.Ile310=
NM_001257335.2:c.780C>A NP_001244264.1:p.Ile260=