Canonical Allele Identifier: CA2300668975

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs1910132551
• gnomAD v4: 18-46086809-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46086809G>A , CM000680.2:g.46086809G>A	GRCh38
NC_000018.9:g.43666775G>A , CM000680.1:g.43666775G>A	GRCh37
NC_000018.8:g.41920773G>A	NCBI36
NG_041769.1:g.22425C>T
NG_041769.2:g.27425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.1176+199C>T MANE Select	ENSP00000381736.5:n.1176+199C>T
ENST00000282050.6:c.1176+199C>T	ENSP00000282050.2:n.1176+199C>T
ENST00000398752.10:c.1176+199C>T	ENSP00000381736.5:n.1176+199C>T
ENST00000586523.1:n.1888C>T
ENST00000586592.5:c.*1239+199C>T	ENSP00000466275.3:n.*1239+199C>T
ENST00000590156.5:c.*1072+199C>T	ENSP00000466309.1:n.*1072+199C>T
ENST00000590665.5:c.1110+199C>T	ENSP00000467037.1:n.1110+199C>T
ENST00000592364.5:c.*49+199C>T	ENSP00000468618.1:n.*49+199C>T
ENST00000593152.6:c.1026+199C>T	ENSP00000465477.2:n.1026+199C>T
NM_001001935.2:c.1026+199C>T	NP_001001935.1:n.1026+199C>T
NM_001001937.1:c.1176+199C>T	NP_001001937.1:n.1176+199C>T
NM_001257334.1:c.1110+199C>T	NP_001244263.1:n.1110+199C>T
NM_001257335.1:c.1026+199C>T	NP_001244264.1:n.1026+199C>T
NM_004046.5:c.1176+199C>T	NP_004037.1:n.1176+199C>T
XM_011526018.1:c.1026+199C>T	XP_011524320.1:n.1026+199C>T
XM_017025789.1:c.1176+199C>T	XP_016881278.1:n.1176+199C>T
NM_004046.6:c.1176+199C>T MANE Select	NP_004037.1:n.1176+199C>T
NM_001001935.3:c.1026+199C>T	NP_001001935.1:n.1026+199C>T
NM_001257334.2:c.1110+199C>T	NP_001244263.1:n.1110+199C>T
NM_001001937.2:c.1176+199C>T	NP_001001937.1:n.1176+199C>T
NM_001257335.2:c.1026+199C>T	NP_001244264.1:n.1026+199C>T