Canonical Allele Identifier: CA409468968
Gene: ATP5F1E HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.57605387T>G (hg19) chr20:g.59030332T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59030332T>G , CM000682.2:g.59030332T>G GRCh38
NC_000020.10:g.57605387T>G , CM000682.1:g.57605387T>G GRCh37
NC_000020.9:g.57038782T>G NCBI36
NG_031871.1:g.7036A>C
NG_031871.2:g.7036A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243997.8:c.130A>C MANE Select ENSP00000243997.3:p.Lys44Gln
ENST00000243997.7:c.130A>C ENSP00000243997.3:p.Lys44Gln
ENST00000395659.1:c.130A>C ENSP00000379019.1:p.Lys44Gln
ENST00000395663.1:c.130A>C ENSP00000379023.1:p.Lys44Gln
NM_006886.3:c.130A>C NP_008817.1:p.Lys44Gln
NR_037929.1:n.834A>C
NR_037930.1:n.575A>C
NM_006886.4:c.130A>C MANE Select NP_008817.1:p.Lys44Gln
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