Canonical Allele Identifier: CA503984921
Gene: ATP5F1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.43667133A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46087167A>C , CM000680.2:g.46087167A>C GRCh38
NC_000018.9:g.43667133A>C , CM000680.1:g.43667133A>C GRCh37
NC_000018.8:g.41921131A>C NCBI36
NG_041769.1:g.22067T>G
NG_041769.2:g.27067T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000398752.11:c.1017T>G MANE Select ENSP00000381736.5:p.Gly339=
ENST00000282050.6:c.1017T>G ENSP00000282050.2:p.Gly339=
ENST00000398752.10:c.1017T>G ENSP00000381736.5:p.Gly339=
ENST00000586523.1:n.1530T>G
ENST00000586592.5:c.*1080T>G ENSP00000466275.3:n.*1080T>G
ENST00000590156.5:c.*913T>G ENSP00000466309.1:n.*913T>G
ENST00000590665.5:c.951T>G ENSP00000467037.1:p.Gly317=
ENST00000592364.5:c.227-103T>G ENSP00000468618.1:n.227-103T>G
ENST00000593152.6:c.867T>G ENSP00000465477.2:p.Gly289=
NM_001001935.2:c.867T>G NP_001001935.1:p.Gly289=
NM_001001937.1:c.1017T>G NP_001001937.1:p.Gly339=
NM_001257334.1:c.951T>G NP_001244263.1:p.Gly317=
NM_001257335.1:c.867T>G NP_001244264.1:p.Gly289=
NM_004046.5:c.1017T>G NP_004037.1:p.Gly339=
XM_011526018.1:c.867T>G XP_011524320.1:p.Gly289=
XM_017025789.1:c.1017T>G XP_016881278.1:p.Gly339=
NM_004046.6:c.1017T>G MANE Select NP_004037.1:p.Gly339=
NM_001001935.3:c.867T>G NP_001001935.1:p.Gly289=
NM_001257334.2:c.951T>G NP_001244263.1:p.Gly317=
NM_001001937.2:c.1017T>G NP_001001937.1:p.Gly339=
NM_001257335.2:c.867T>G NP_001244264.1:p.Gly289=