Canonical Allele Identifier: CA402355109

Gene: ATP5F1A

Linked Data

• MyVariant Identifiers: chr18:g.43667307C>G (hg19) ; chr18:g.46087341C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087341C>G , CM000680.2:g.46087341C>G	GRCh38
NC_000018.9:g.43667307C>G , CM000680.1:g.43667307C>G	GRCh37
NC_000018.8:g.41921305C>G	NCBI36
NG_041769.1:g.21893G>C
NG_041769.2:g.26893G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.951G>C MANE Select	ENSP00000381736.5:p.Gln317His
ENST00000282050.6:c.951G>C	ENSP00000282050.2:p.Gln317His
ENST00000398752.10:c.951G>C	ENSP00000381736.5:p.Gln317His
ENST00000586523.1:n.1356G>C
ENST00000586592.5:c.*1014G>C	ENSP00000466275.3:n.*1014G>C
ENST00000590156.5:c.*847G>C	ENSP00000466309.1:n.*847G>C
ENST00000590665.5:c.885G>C	ENSP00000467037.1:p.Gln295His
ENST00000592364.5:c.227-277G>C	ENSP00000468618.1:n.227-277G>C
ENST00000593152.6:c.801G>C	ENSP00000465477.2:p.Gln267His
NM_001001935.2:c.801G>C	NP_001001935.1:p.Gln267His
NM_001001937.1:c.951G>C	NP_001001937.1:p.Gln317His
NM_001257334.1:c.885G>C	NP_001244263.1:p.Gln295His
NM_001257335.1:c.801G>C	NP_001244264.1:p.Gln267His
NM_004046.5:c.951G>C	NP_004037.1:p.Gln317His
XM_011526018.1:c.801G>C	XP_011524320.1:p.Gln267His
XM_017025789.1:c.951G>C	XP_016881278.1:p.Gln317His
NM_004046.6:c.951G>C MANE Select	NP_004037.1:p.Gln317His
NM_001001935.3:c.801G>C	NP_001001935.1:p.Gln267His
NM_001257334.2:c.885G>C	NP_001244263.1:p.Gln295His
NM_001001937.2:c.951G>C	NP_001001937.1:p.Gln317His
NM_001257335.2:c.801G>C	NP_001244264.1:p.Gln267His