Canonical Allele Identifier: CA8950671

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs587777788
• ExAC: 18:43667188 T / A
• gnomAD v2: 18-43667188-T-A
• MyVariant Identifiers: chr18:g.43667188T>A (hg19) ; chr18:g.46087222T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087222T>A , CM000680.2:g.46087222T>A	GRCh38
NC_000018.9:g.43667188T>A , CM000680.1:g.43667188T>A	GRCh37
NC_000018.8:g.41921186T>A	NCBI36
NG_041769.1:g.22012A>T
NG_041769.2:g.27012A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.962A>T MANE Select	ENSP00000381736.5:p.Tyr321Phe
ENST00000282050.6:c.962A>T	ENSP00000282050.2:p.Tyr321Phe
ENST00000398752.10:c.962A>T	ENSP00000381736.5:p.Tyr321Phe
ENST00000586523.1:n.1475A>T
ENST00000586592.5:c.*1025A>T	ENSP00000466275.3:n.*1025A>T
ENST00000590156.5:c.*858A>T	ENSP00000466309.1:n.*858A>T
ENST00000590665.5:c.896A>T	ENSP00000467037.1:p.Tyr299Phe
ENST00000592364.5:c.227-158A>T	ENSP00000468618.1:n.227-158A>T
ENST00000593152.6:c.812A>T	ENSP00000465477.2:p.Tyr271Phe
NM_001001935.2:c.812A>T	NP_001001935.1:p.Tyr271Phe
NM_001001937.1:c.962A>T	NP_001001937.1:p.Tyr321Phe
NM_001257334.1:c.896A>T	NP_001244263.1:p.Tyr299Phe
NM_001257335.1:c.812A>T	NP_001244264.1:p.Tyr271Phe
NM_004046.5:c.962A>T	NP_004037.1:p.Tyr321Phe
XM_011526018.1:c.812A>T	XP_011524320.1:p.Tyr271Phe
XM_017025789.1:c.962A>T	XP_016881278.1:p.Tyr321Phe
NM_004046.6:c.962A>T MANE Select	NP_004037.1:p.Tyr321Phe
NM_001001935.3:c.812A>T	NP_001001935.1:p.Tyr271Phe
NM_001257334.2:c.896A>T	NP_001244263.1:p.Tyr299Phe
NM_001001937.2:c.962A>T	NP_001001937.1:p.Tyr321Phe
NM_001257335.2:c.812A>T	NP_001244264.1:p.Tyr271Phe