Canonical Allele Identifier: CA503985083
Gene: ATP5F1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.43667430C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46087464C>G , CM000680.2:g.46087464C>G GRCh38
NC_000018.9:g.43667430C>G , CM000680.1:g.43667430C>G GRCh37
NC_000018.8:g.41921428C>G NCBI36
NG_041769.1:g.21770G>C
NG_041769.2:g.26770G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000398752.11:c.828G>C MANE Select ENSP00000381736.5:p.Ser276=
ENST00000282050.6:c.828G>C ENSP00000282050.2:p.Ser276=
ENST00000398752.10:c.828G>C ENSP00000381736.5:p.Ser276=
ENST00000586523.1:n.1233G>C
ENST00000586592.5:c.*891G>C ENSP00000466275.3:n.*891G>C
ENST00000589252.5:c.561G>C ENSP00000466975.1:p.Ser187=
ENST00000590156.5:c.*724G>C ENSP00000466309.1:n.*724G>C
ENST00000590665.5:c.762G>C ENSP00000467037.1:p.Ser254=
ENST00000592364.5:c.227-400G>C ENSP00000468618.1:n.227-400G>C
ENST00000593152.6:c.678G>C ENSP00000465477.2:p.Ser226=
NM_001001935.2:c.678G>C NP_001001935.1:p.Ser226=
NM_001001937.1:c.828G>C NP_001001937.1:p.Ser276=
NM_001257334.1:c.762G>C NP_001244263.1:p.Ser254=
NM_001257335.1:c.678G>C NP_001244264.1:p.Ser226=
NM_004046.5:c.828G>C NP_004037.1:p.Ser276=
XM_011526018.1:c.678G>C XP_011524320.1:p.Ser226=
XM_017025789.1:c.828G>C XP_016881278.1:p.Ser276=
NM_004046.6:c.828G>C MANE Select NP_004037.1:p.Ser276=
NM_001001935.3:c.678G>C NP_001001935.1:p.Ser226=
NM_001257334.2:c.762G>C NP_001244263.1:p.Ser254=
NM_001001937.2:c.828G>C NP_001001937.1:p.Ser276=
NM_001257335.2:c.678G>C NP_001244264.1:p.Ser226=