Canonical Allele Identifier: CA2300676290
Gene: ATP5F1A HGNC NCBI

Linked Data

dbSNP Id: rs1911249047
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46100643A>G , CM000680.2:g.46100643A>G GRCh38
NC_000018.9:g.43680609A>G , CM000680.1:g.43680609A>G GRCh37
NC_000018.8:g.41934607A>G NCBI36
NG_041769.1:g.8591T>C
NG_041769.2:g.13591T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282050.6:c.-48-2364T>C ENSP00000282050.2:n.-48-2364T>C
ENST00000589869.5:c.-91+3494T>C ENSP00000465497.1:n.-91+3494T>C
ENST00000590324.5:c.-277+3494T>C ENSP00000465259.1:n.-277+3494T>C
ENST00000590406.5:c.-48-2364T>C ENSP00000468458.1:n.-48-2364T>C
ENST00000590448.5:n.117+3494T>C
ENST00000592989.1:c.-83+3494T>C ENSP00000467830.1:n.-83+3494T>C
NM_001001937.1:c.-48-2364T>C NP_001001937.1:n.-48-2364T>C
XM_011526018.1:c.-91+3494T>C XP_011524320.1:n.-91+3494T>C
NM_001001937.2:c.-48-2364T>C NP_001001937.1:n.-48-2364T>C
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