Canonical Allele Identifier: CA402355132

Gene: ATP5F1A

Linked Data

• gnomAD v4: 18-46087348-G-A
• MyVariant Identifiers: chr18:g.43667314G>A (hg19) ; chr18:g.46087348G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087348G>A , CM000680.2:g.46087348G>A	GRCh38
NC_000018.9:g.43667314G>A , CM000680.1:g.43667314G>A	GRCh37
NC_000018.8:g.41921312G>A	NCBI36
NG_041769.1:g.21886C>T
NG_041769.2:g.26886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.944C>T MANE Select	ENSP00000381736.5:p.Ser315Phe
ENST00000282050.6:c.944C>T	ENSP00000282050.2:p.Ser315Phe
ENST00000398752.10:c.944C>T	ENSP00000381736.5:p.Ser315Phe
ENST00000586523.1:n.1349C>T
ENST00000586592.5:c.*1007C>T	ENSP00000466275.3:n.*1007C>T
ENST00000590156.5:c.*840C>T	ENSP00000466309.1:n.*840C>T
ENST00000590665.5:c.878C>T	ENSP00000467037.1:p.Ser293Phe
ENST00000592364.5:c.227-284C>T	ENSP00000468618.1:n.227-284C>T
ENST00000593152.6:c.794C>T	ENSP00000465477.2:p.Ser265Phe
NM_001001935.2:c.794C>T	NP_001001935.1:p.Ser265Phe
NM_001001937.1:c.944C>T	NP_001001937.1:p.Ser315Phe
NM_001257334.1:c.878C>T	NP_001244263.1:p.Ser293Phe
NM_001257335.1:c.794C>T	NP_001244264.1:p.Ser265Phe
NM_004046.5:c.944C>T	NP_004037.1:p.Ser315Phe
XM_011526018.1:c.794C>T	XP_011524320.1:p.Ser265Phe
XM_017025789.1:c.944C>T	XP_016881278.1:p.Ser315Phe
NM_004046.6:c.944C>T MANE Select	NP_004037.1:p.Ser315Phe
NM_001001935.3:c.794C>T	NP_001001935.1:p.Ser265Phe
NM_001257334.2:c.878C>T	NP_001244263.1:p.Ser293Phe
NM_001001937.2:c.944C>T	NP_001001937.1:p.Ser315Phe
NM_001257335.2:c.794C>T	NP_001244264.1:p.Ser265Phe