Canonical Allele Identifier: CA402355577

Gene: ATP5F1A

Linked Data

• gnomAD v4: 18-46087478-T-C
• MyVariant Identifiers: chr18:g.43667444T>C (hg19) ; chr18:g.46087478T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087478T>C , CM000680.2:g.46087478T>C	GRCh38
NC_000018.9:g.43667444T>C , CM000680.1:g.43667444T>C	GRCh37
NC_000018.8:g.41921442T>C	NCBI36
NG_041769.1:g.21756A>G
NG_041769.2:g.26756A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.814A>G MANE Select	ENSP00000381736.5:p.Thr272Ala
ENST00000282050.6:c.814A>G	ENSP00000282050.2:p.Thr272Ala
ENST00000398752.10:c.814A>G	ENSP00000381736.5:p.Thr272Ala
ENST00000586523.1:n.1219A>G
ENST00000586592.5:c.*877A>G	ENSP00000466275.3:n.*877A>G
ENST00000589252.5:c.547A>G	ENSP00000466975.1:p.Thr183Ala
ENST00000590156.5:c.*710A>G	ENSP00000466309.1:n.*710A>G
ENST00000590665.5:c.748A>G	ENSP00000467037.1:p.Thr250Ala
ENST00000592364.5:c.227-414A>G	ENSP00000468618.1:n.227-414A>G
ENST00000593152.6:c.664A>G	ENSP00000465477.2:p.Thr222Ala
NM_001001935.2:c.664A>G	NP_001001935.1:p.Thr222Ala
NM_001001937.1:c.814A>G	NP_001001937.1:p.Thr272Ala
NM_001257334.1:c.748A>G	NP_001244263.1:p.Thr250Ala
NM_001257335.1:c.664A>G	NP_001244264.1:p.Thr222Ala
NM_004046.5:c.814A>G	NP_004037.1:p.Thr272Ala
XM_011526018.1:c.664A>G	XP_011524320.1:p.Thr222Ala
XM_017025789.1:c.814A>G	XP_016881278.1:p.Thr272Ala
NM_004046.6:c.814A>G MANE Select	NP_004037.1:p.Thr272Ala
NM_001001935.3:c.664A>G	NP_001001935.1:p.Thr222Ala
NM_001257334.2:c.748A>G	NP_001244263.1:p.Thr250Ala
NM_001001937.2:c.814A>G	NP_001001937.1:p.Thr272Ala
NM_001257335.2:c.664A>G	NP_001244264.1:p.Thr222Ala