Canonical Allele Identifier: CA8950677

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs758201740
• ExAC: 18:43667250 A / G
• gnomAD v2: 18-43667250-A-G
• gnomAD v4: 18-46087284-A-G
• MyVariant Identifiers: chr18:g.43667250A>G (hg19) ; chr18:g.46087284A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087284A>G , CM000680.2:g.46087284A>G	GRCh38
NC_000018.9:g.43667250A>G , CM000680.1:g.43667250A>G	GRCh37
NC_000018.8:g.41921248A>G	NCBI36
NG_041769.1:g.21950T>C
NG_041769.2:g.26950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.952-52T>C MANE Select	ENSP00000381736.5:n.952-52T>C
ENST00000282050.6:c.952-52T>C	ENSP00000282050.2:n.952-52T>C
ENST00000398752.10:c.952-52T>C	ENSP00000381736.5:n.952-52T>C
ENST00000586523.1:n.1413T>C
ENST00000586592.5:c.*1015-52T>C	ENSP00000466275.3:n.*1015-52T>C
ENST00000590156.5:c.*848-52T>C	ENSP00000466309.1:n.*848-52T>C
ENST00000590665.5:c.886-52T>C	ENSP00000467037.1:n.886-52T>C
ENST00000592364.5:c.227-220T>C	ENSP00000468618.1:n.227-220T>C
ENST00000593152.6:c.802-52T>C	ENSP00000465477.2:n.802-52T>C
NM_001001935.2:c.802-52T>C	NP_001001935.1:n.802-52T>C
NM_001001937.1:c.952-52T>C	NP_001001937.1:n.952-52T>C
NM_001257334.1:c.886-52T>C	NP_001244263.1:n.886-52T>C
NM_001257335.1:c.802-52T>C	NP_001244264.1:n.802-52T>C
NM_004046.5:c.952-52T>C	NP_004037.1:n.952-52T>C
XM_011526018.1:c.802-52T>C	XP_011524320.1:n.802-52T>C
XM_017025789.1:c.952-52T>C	XP_016881278.1:n.952-52T>C
NM_004046.6:c.952-52T>C MANE Select	NP_004037.1:n.952-52T>C
NM_001001935.3:c.802-52T>C	NP_001001935.1:n.802-52T>C
NM_001257334.2:c.886-52T>C	NP_001244263.1:n.886-52T>C
NM_001001937.2:c.952-52T>C	NP_001001937.1:n.952-52T>C
NM_001257335.2:c.802-52T>C	NP_001244264.1:n.802-52T>C