Canonical Allele Identifier: CA8950700

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs753952939
• ExAC: 18:43667419 G / A
• gnomAD v2: 18-43667419-G-A
• gnomAD v3: 18-46087453-G-A
• gnomAD v4: 18-46087453-G-A
• MyVariant Identifiers: chr18:g.43667419G>A (hg19) ; chr18:g.46087453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087453G>A , CM000680.2:g.46087453G>A	GRCh38
NC_000018.9:g.43667419G>A , CM000680.1:g.43667419G>A	GRCh37
NC_000018.8:g.41921417G>A	NCBI36
NG_041769.1:g.21781C>T
NG_041769.2:g.26781C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.839C>T MANE Select	ENSP00000381736.5:p.Ser280Leu
ENST00000282050.6:c.839C>T	ENSP00000282050.2:p.Ser280Leu
ENST00000398752.10:c.839C>T	ENSP00000381736.5:p.Ser280Leu
ENST00000586523.1:n.1244C>T
ENST00000586592.5:c.*902C>T	ENSP00000466275.3:n.*902C>T
ENST00000589252.5:c.572C>T	ENSP00000466975.1:p.Ser191Leu
ENST00000590156.5:c.*735C>T	ENSP00000466309.1:n.*735C>T
ENST00000590665.5:c.773C>T	ENSP00000467037.1:p.Ser258Leu
ENST00000592364.5:c.227-389C>T	ENSP00000468618.1:n.227-389C>T
ENST00000593152.6:c.689C>T	ENSP00000465477.2:p.Ser230Leu
NM_001001935.2:c.689C>T	NP_001001935.1:p.Ser230Leu
NM_001001937.1:c.839C>T	NP_001001937.1:p.Ser280Leu
NM_001257334.1:c.773C>T	NP_001244263.1:p.Ser258Leu
NM_001257335.1:c.689C>T	NP_001244264.1:p.Ser230Leu
NM_004046.5:c.839C>T	NP_004037.1:p.Ser280Leu
XM_011526018.1:c.689C>T	XP_011524320.1:p.Ser230Leu
XM_017025789.1:c.839C>T	XP_016881278.1:p.Ser280Leu
NM_004046.6:c.839C>T MANE Select	NP_004037.1:p.Ser280Leu
NM_001001935.3:c.689C>T	NP_001001935.1:p.Ser230Leu
NM_001257334.2:c.773C>T	NP_001244263.1:p.Ser258Leu
NM_001001937.2:c.839C>T	NP_001001937.1:p.Ser280Leu
NM_001257335.2:c.689C>T	NP_001244264.1:p.Ser230Leu