Canonical Allele Identifier: CA989892013

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs1911252027
• gnomAD v3: 18-46100770-T-C
• gnomAD v4: 18-46100770-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46100770T>C , CM000680.2:g.46100770T>C	GRCh38
NC_000018.9:g.43680736T>C , CM000680.1:g.43680736T>C	GRCh37
NC_000018.8:g.41934734T>C	NCBI36
NG_041769.1:g.8464A>G
NG_041769.2:g.13464A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282050.6:c.-48-2491A>G	ENSP00000282050.2:n.-48-2491A>G
ENST00000589869.5:c.-91+3367A>G	ENSP00000465497.1:n.-91+3367A>G
ENST00000590324.5:c.-277+3367A>G	ENSP00000465259.1:n.-277+3367A>G
ENST00000590406.5:c.-48-2491A>G	ENSP00000468458.1:n.-48-2491A>G
ENST00000590448.5:n.117+3367A>G
ENST00000592989.1:c.-83+3367A>G	ENSP00000467830.1:n.-83+3367A>G
NM_001001937.1:c.-48-2491A>G	NP_001001937.1:n.-48-2491A>G
XM_011526018.1:c.-91+3367A>G	XP_011524320.1:n.-91+3367A>G
NM_001001937.2:c.-48-2491A>G	NP_001001937.1:n.-48-2491A>G