Canonical Allele Identifier: CA503985056

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs949048945
• gnomAD v4: 18-46087452-C-A
• MyVariant Identifiers: chr18:g.43667418C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087452C>A , CM000680.2:g.46087452C>A	GRCh38
NC_000018.9:g.43667418C>A , CM000680.1:g.43667418C>A	GRCh37
NC_000018.8:g.41921416C>A	NCBI36
NG_041769.1:g.21782G>T
NG_041769.2:g.26782G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.840G>T MANE Select	ENSP00000381736.5:p.Ser280=
ENST00000282050.6:c.840G>T	ENSP00000282050.2:p.Ser280=
ENST00000398752.10:c.840G>T	ENSP00000381736.5:p.Ser280=
ENST00000586523.1:n.1245G>T
ENST00000586592.5:c.*903G>T	ENSP00000466275.3:n.*903G>T
ENST00000589252.5:c.573G>T	ENSP00000466975.1:p.Ser191=
ENST00000590156.5:c.*736G>T	ENSP00000466309.1:n.*736G>T
ENST00000590665.5:c.774G>T	ENSP00000467037.1:p.Ser258=
ENST00000592364.5:c.227-388G>T	ENSP00000468618.1:n.227-388G>T
ENST00000593152.6:c.690G>T	ENSP00000465477.2:p.Ser230=
NM_001001935.2:c.690G>T	NP_001001935.1:p.Ser230=
NM_001001937.1:c.840G>T	NP_001001937.1:p.Ser280=
NM_001257334.1:c.774G>T	NP_001244263.1:p.Ser258=
NM_001257335.1:c.690G>T	NP_001244264.1:p.Ser230=
NM_004046.5:c.840G>T	NP_004037.1:p.Ser280=
XM_011526018.1:c.690G>T	XP_011524320.1:p.Ser230=
XM_017025789.1:c.840G>T	XP_016881278.1:p.Ser280=
NM_004046.6:c.840G>T MANE Select	NP_004037.1:p.Ser280=
NM_001001935.3:c.690G>T	NP_001001935.1:p.Ser230=
NM_001257334.2:c.774G>T	NP_001244263.1:p.Ser258=
NM_001001937.2:c.840G>T	NP_001001937.1:p.Ser280=
NM_001257335.2:c.690G>T	NP_001244264.1:p.Ser230=