Canonical Allele Identifier: CA402355489

Gene: ATP5F1A

Linked Data

• gnomAD v4: 18-46087448-C-T
• MyVariant Identifiers: chr18:g.43667414C>T (hg19) ; chr18:g.46087448C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087448C>T , CM000680.2:g.46087448C>T	GRCh38
NC_000018.9:g.43667414C>T , CM000680.1:g.43667414C>T	GRCh37
NC_000018.8:g.41921412C>T	NCBI36
NG_041769.1:g.21786G>A
NG_041769.2:g.26786G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.844G>A MANE Select	ENSP00000381736.5:p.Ala282Thr
ENST00000282050.6:c.844G>A	ENSP00000282050.2:p.Ala282Thr
ENST00000398752.10:c.844G>A	ENSP00000381736.5:p.Ala282Thr
ENST00000586523.1:n.1249G>A
ENST00000586592.5:c.*907G>A	ENSP00000466275.3:n.*907G>A
ENST00000589252.5:c.577G>A	ENSP00000466975.1:p.Ala193Thr
ENST00000590156.5:c.*740G>A	ENSP00000466309.1:n.*740G>A
ENST00000590665.5:c.778G>A	ENSP00000467037.1:p.Ala260Thr
ENST00000592364.5:c.227-384G>A	ENSP00000468618.1:n.227-384G>A
ENST00000593152.6:c.694G>A	ENSP00000465477.2:p.Ala232Thr
NM_001001935.2:c.694G>A	NP_001001935.1:p.Ala232Thr
NM_001001937.1:c.844G>A	NP_001001937.1:p.Ala282Thr
NM_001257334.1:c.778G>A	NP_001244263.1:p.Ala260Thr
NM_001257335.1:c.694G>A	NP_001244264.1:p.Ala232Thr
NM_004046.5:c.844G>A	NP_004037.1:p.Ala282Thr
XM_011526018.1:c.694G>A	XP_011524320.1:p.Ala232Thr
XM_017025789.1:c.844G>A	XP_016881278.1:p.Ala282Thr
NM_004046.6:c.844G>A MANE Select	NP_004037.1:p.Ala282Thr
NM_001001935.3:c.694G>A	NP_001001935.1:p.Ala232Thr
NM_001257334.2:c.778G>A	NP_001244263.1:p.Ala260Thr
NM_001001937.2:c.844G>A	NP_001001937.1:p.Ala282Thr
NM_001257335.2:c.694G>A	NP_001244264.1:p.Ala232Thr