Canonical Allele Identifier: CA2300669182

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs1910175081
• gnomAD v4: 18-46087288-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087288G>C , CM000680.2:g.46087288G>C	GRCh38
NC_000018.9:g.43667254G>C , CM000680.1:g.43667254G>C	GRCh37
NC_000018.8:g.41921252G>C	NCBI36
NG_041769.1:g.21946C>G
NG_041769.2:g.26946C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.951+53C>G MANE Select	ENSP00000381736.5:n.951+53C>G
ENST00000282050.6:c.951+53C>G	ENSP00000282050.2:n.951+53C>G
ENST00000398752.10:c.951+53C>G	ENSP00000381736.5:n.951+53C>G
ENST00000586523.1:n.1409C>G
ENST00000586592.5:c.*1014+53C>G	ENSP00000466275.3:n.*1014+53C>G
ENST00000590156.5:c.*847+53C>G	ENSP00000466309.1:n.*847+53C>G
ENST00000590665.5:c.885+53C>G	ENSP00000467037.1:n.885+53C>G
ENST00000592364.5:c.227-224C>G	ENSP00000468618.1:n.227-224C>G
ENST00000593152.6:c.801+53C>G	ENSP00000465477.2:n.801+53C>G
NM_001001935.2:c.801+53C>G	NP_001001935.1:n.801+53C>G
NM_001001937.1:c.951+53C>G	NP_001001937.1:n.951+53C>G
NM_001257334.1:c.885+53C>G	NP_001244263.1:n.885+53C>G
NM_001257335.1:c.801+53C>G	NP_001244264.1:n.801+53C>G
NM_004046.5:c.951+53C>G	NP_004037.1:n.951+53C>G
XM_011526018.1:c.801+53C>G	XP_011524320.1:n.801+53C>G
XM_017025789.1:c.951+53C>G	XP_016881278.1:n.951+53C>G
NM_004046.6:c.951+53C>G MANE Select	NP_004037.1:n.951+53C>G
NM_001001935.3:c.801+53C>G	NP_001001935.1:n.801+53C>G
NM_001257334.2:c.885+53C>G	NP_001244263.1:n.885+53C>G
NM_001001937.2:c.951+53C>G	NP_001001937.1:n.951+53C>G
NM_001257335.2:c.801+53C>G	NP_001244264.1:n.801+53C>G