Canonical Allele Identifier: CA402355456

Gene: ATP5F1A

Linked Data

• gnomAD v4: 18-46087442-G-C
• MyVariant Identifiers: chr18:g.43667408G>C (hg19) ; chr18:g.46087442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087442G>C , CM000680.2:g.46087442G>C	GRCh38
NC_000018.9:g.43667408G>C , CM000680.1:g.43667408G>C	GRCh37
NC_000018.8:g.41921406G>C	NCBI36
NG_041769.1:g.21792C>G
NG_041769.2:g.26792C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.850C>G MANE Select	ENSP00000381736.5:p.Pro284Ala
ENST00000282050.6:c.850C>G	ENSP00000282050.2:p.Pro284Ala
ENST00000398752.10:c.850C>G	ENSP00000381736.5:p.Pro284Ala
ENST00000586523.1:n.1255C>G
ENST00000586592.5:c.*913C>G	ENSP00000466275.3:n.*913C>G
ENST00000589252.5:c.583C>G	ENSP00000466975.1:p.Pro195Ala
ENST00000590156.5:c.*746C>G	ENSP00000466309.1:n.*746C>G
ENST00000590665.5:c.784C>G	ENSP00000467037.1:p.Pro262Ala
ENST00000592364.5:c.227-378C>G	ENSP00000468618.1:n.227-378C>G
ENST00000593152.6:c.700C>G	ENSP00000465477.2:p.Pro234Ala
NM_001001935.2:c.700C>G	NP_001001935.1:p.Pro234Ala
NM_001001937.1:c.850C>G	NP_001001937.1:p.Pro284Ala
NM_001257334.1:c.784C>G	NP_001244263.1:p.Pro262Ala
NM_001257335.1:c.700C>G	NP_001244264.1:p.Pro234Ala
NM_004046.5:c.850C>G	NP_004037.1:p.Pro284Ala
XM_011526018.1:c.700C>G	XP_011524320.1:p.Pro234Ala
XM_017025789.1:c.850C>G	XP_016881278.1:p.Pro284Ala
NM_004046.6:c.850C>G MANE Select	NP_004037.1:p.Pro284Ala
NM_001001935.3:c.700C>G	NP_001001935.1:p.Pro234Ala
NM_001257334.2:c.784C>G	NP_001244263.1:p.Pro262Ala
NM_001001937.2:c.850C>G	NP_001001937.1:p.Pro284Ala
NM_001257335.2:c.700C>G	NP_001244264.1:p.Pro234Ala