Canonical Allele Identifier: CA503985001

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs1433914809
• gnomAD v2: 18-43667166-G-C
• MyVariant Identifiers: chr18:g.43667166G>C (hg19) ; chr18:g.46087200G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087200G>C , CM000680.2:g.46087200G>C	GRCh38
NC_000018.9:g.43667166G>C , CM000680.1:g.43667166G>C	GRCh37
NC_000018.8:g.41921164G>C	NCBI36
NG_041769.1:g.22034C>G
NG_041769.2:g.27034C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.984C>G MANE Select	ENSP00000381736.5:p.Leu328=
ENST00000282050.6:c.984C>G	ENSP00000282050.2:p.Leu328=
ENST00000398752.10:c.984C>G	ENSP00000381736.5:p.Leu328=
ENST00000586523.1:n.1497C>G
ENST00000586592.5:c.*1047C>G	ENSP00000466275.3:n.*1047C>G
ENST00000590156.5:c.*880C>G	ENSP00000466309.1:n.*880C>G
ENST00000590665.5:c.918C>G	ENSP00000467037.1:p.Leu306=
ENST00000592364.5:c.227-136C>G	ENSP00000468618.1:n.227-136C>G
ENST00000593152.6:c.834C>G	ENSP00000465477.2:p.Leu278=
NM_001001935.2:c.834C>G	NP_001001935.1:p.Leu278=
NM_001001937.1:c.984C>G	NP_001001937.1:p.Leu328=
NM_001257334.1:c.918C>G	NP_001244263.1:p.Leu306=
NM_001257335.1:c.834C>G	NP_001244264.1:p.Leu278=
NM_004046.5:c.984C>G	NP_004037.1:p.Leu328=
XM_011526018.1:c.834C>G	XP_011524320.1:p.Leu278=
XM_017025789.1:c.984C>G	XP_016881278.1:p.Leu328=
NM_004046.6:c.984C>G MANE Select	NP_004037.1:p.Leu328=
NM_001001935.3:c.834C>G	NP_001001935.1:p.Leu278=
NM_001257334.2:c.918C>G	NP_001244263.1:p.Leu306=
NM_001001937.2:c.984C>G	NP_001001937.1:p.Leu328=
NM_001257335.2:c.834C>G	NP_001244264.1:p.Leu278=