Canonical Allele Identifier: CA503984802
Gene: ATP5F1A HGNC NCBI

Linked Data

dbSNP Id: rs1599771191
MyVariant Identifiers: chr18:g.43667076A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46087110A>G , CM000680.2:g.46087110A>G GRCh38
NC_000018.9:g.43667076A>G , CM000680.1:g.43667076A>G GRCh37
NC_000018.8:g.41921074A>G NCBI36
NG_041769.1:g.22124T>C
NG_041769.2:g.27124T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000398752.11:c.1074T>C MANE Select ENSP00000381736.5:p.Ala358=
ENST00000282050.6:c.1074T>C ENSP00000282050.2:p.Ala358=
ENST00000398752.10:c.1074T>C ENSP00000381736.5:p.Ala358=
ENST00000586523.1:n.1587T>C
ENST00000586592.5:c.*1137T>C ENSP00000466275.3:n.*1137T>C
ENST00000590156.5:c.*970T>C ENSP00000466309.1:n.*970T>C
ENST00000590665.5:c.1008T>C ENSP00000467037.1:p.Ala336=
ENST00000592364.5:c.227-46T>C ENSP00000468618.1:n.227-46T>C
ENST00000593152.6:c.924T>C ENSP00000465477.2:p.Ala308=
NM_001001935.2:c.924T>C NP_001001935.1:p.Ala308=
NM_001001937.1:c.1074T>C NP_001001937.1:p.Ala358=
NM_001257334.1:c.1008T>C NP_001244263.1:p.Ala336=
NM_001257335.1:c.924T>C NP_001244264.1:p.Ala308=
NM_004046.5:c.1074T>C NP_004037.1:p.Ala358=
XM_011526018.1:c.924T>C XP_011524320.1:p.Ala308=
XM_017025789.1:c.1074T>C XP_016881278.1:p.Ala358=
NM_004046.6:c.1074T>C MANE Select NP_004037.1:p.Ala358=
NM_001001935.3:c.924T>C NP_001001935.1:p.Ala308=
NM_001257334.2:c.1008T>C NP_001244263.1:p.Ala336=
NM_001001937.2:c.1074T>C NP_001001937.1:p.Ala358=
NM_001257335.2:c.924T>C NP_001244264.1:p.Ala308=