Canonical Allele Identifier: CA2300668996

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs1910136047
• gnomAD v4: 18-46086835-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46086835A>G , CM000680.2:g.46086835A>G	GRCh38
NC_000018.9:g.43666801A>G , CM000680.1:g.43666801A>G	GRCh37
NC_000018.8:g.41920799A>G	NCBI36
NG_041769.1:g.22399T>C
NG_041769.2:g.27399T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.1176+173T>C MANE Select	ENSP00000381736.5:n.1176+173T>C
ENST00000282050.6:c.1176+173T>C	ENSP00000282050.2:n.1176+173T>C
ENST00000398752.10:c.1176+173T>C	ENSP00000381736.5:n.1176+173T>C
ENST00000586523.1:n.1862T>C
ENST00000586592.5:c.*1239+173T>C	ENSP00000466275.3:n.*1239+173T>C
ENST00000590156.5:c.*1072+173T>C	ENSP00000466309.1:n.*1072+173T>C
ENST00000590665.5:c.1110+173T>C	ENSP00000467037.1:n.1110+173T>C
ENST00000592364.5:c.*49+173T>C	ENSP00000468618.1:n.*49+173T>C
ENST00000593152.6:c.1026+173T>C	ENSP00000465477.2:n.1026+173T>C
NM_001001935.2:c.1026+173T>C	NP_001001935.1:n.1026+173T>C
NM_001001937.1:c.1176+173T>C	NP_001001937.1:n.1176+173T>C
NM_001257334.1:c.1110+173T>C	NP_001244263.1:n.1110+173T>C
NM_001257335.1:c.1026+173T>C	NP_001244264.1:n.1026+173T>C
NM_004046.5:c.1176+173T>C	NP_004037.1:n.1176+173T>C
XM_011526018.1:c.1026+173T>C	XP_011524320.1:n.1026+173T>C
XM_017025789.1:c.1176+173T>C	XP_016881278.1:n.1176+173T>C
NM_004046.6:c.1176+173T>C MANE Select	NP_004037.1:n.1176+173T>C
NM_001001935.3:c.1026+173T>C	NP_001001935.1:n.1026+173T>C
NM_001257334.2:c.1110+173T>C	NP_001244263.1:n.1110+173T>C
NM_001001937.2:c.1176+173T>C	NP_001001937.1:n.1176+173T>C
NM_001257335.2:c.1026+173T>C	NP_001244264.1:n.1026+173T>C