Canonical Allele Identifier: CA409468975
Gene: ATP5F1E HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.57605391G>T (hg19) chr20:g.59030336G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59030336G>T , CM000682.2:g.59030336G>T GRCh38
NC_000020.10:g.57605391G>T , CM000682.1:g.57605391G>T GRCh37
NC_000020.9:g.57038786G>T NCBI36
NG_031871.1:g.7032C>A
NG_031871.2:g.7032C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000243997.8:c.126C>A MANE Select ENSP00000243997.3:p.Asn42Lys
ENST00000243997.7:c.126C>A ENSP00000243997.3:p.Asn42Lys
ENST00000395659.1:c.126C>A ENSP00000379019.1:p.Asn42Lys
ENST00000395663.1:c.126C>A ENSP00000379023.1:p.Asn42Lys
NM_006886.3:c.126C>A NP_008817.1:p.Asn42Lys
NR_037929.1:n.830C>A
NR_037930.1:n.571C>A
NM_006886.4:c.126C>A MANE Select NP_008817.1:p.Asn42Lys
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