Canonical Allele Identifier: CA402355225

Gene: ATP5F1A

Linked Data

• gnomAD v4: 18-46087388-C-G
• MyVariant Identifiers: chr18:g.43667354C>G (hg19) ; chr18:g.46087388C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087388C>G , CM000680.2:g.46087388C>G	GRCh38
NC_000018.9:g.43667354C>G , CM000680.1:g.43667354C>G	GRCh37
NC_000018.8:g.41921352C>G	NCBI36
NG_041769.1:g.21846G>C
NG_041769.2:g.26846G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.904G>C MANE Select	ENSP00000381736.5:p.Asp302His
ENST00000282050.6:c.904G>C	ENSP00000282050.2:p.Asp302His
ENST00000398752.10:c.904G>C	ENSP00000381736.5:p.Asp302His
ENST00000586523.1:n.1309G>C
ENST00000586592.5:c.*967G>C	ENSP00000466275.3:n.*967G>C
ENST00000590156.5:c.*800G>C	ENSP00000466309.1:n.*800G>C
ENST00000590665.5:c.838G>C	ENSP00000467037.1:p.Asp280His
ENST00000592364.5:c.227-324G>C	ENSP00000468618.1:n.227-324G>C
ENST00000593152.6:c.754G>C	ENSP00000465477.2:p.Asp252His
NM_001001935.2:c.754G>C	NP_001001935.1:p.Asp252His
NM_001001937.1:c.904G>C	NP_001001937.1:p.Asp302His
NM_001257334.1:c.838G>C	NP_001244263.1:p.Asp280His
NM_001257335.1:c.754G>C	NP_001244264.1:p.Asp252His
NM_004046.5:c.904G>C	NP_004037.1:p.Asp302His
XM_011526018.1:c.754G>C	XP_011524320.1:p.Asp252His
XM_017025789.1:c.904G>C	XP_016881278.1:p.Asp302His
NM_004046.6:c.904G>C MANE Select	NP_004037.1:p.Asp302His
NM_001001935.3:c.754G>C	NP_001001935.1:p.Asp252His
NM_001257334.2:c.838G>C	NP_001244263.1:p.Asp280His
NM_001001937.2:c.904G>C	NP_001001937.1:p.Asp302His
NM_001257335.2:c.754G>C	NP_001244264.1:p.Asp252His