Canonical Allele Identifier: CA409468966
Gene: ATP5F1E HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000243997.8:c.130A>T MANE Select ENSP00000243997.3:p.Lys44Ter
ENST00000243997.7:c.130A>T ENSP00000243997.3:p.Lys44Ter
ENST00000395659.1:c.130A>T ENSP00000379019.1:p.Lys44Ter
ENST00000395663.1:c.130A>T ENSP00000379023.1:p.Lys44Ter
NM_006886.3:c.130A>T NP_008817.1:p.Lys44Ter
NR_037929.1:n.834A>T
NR_037930.1:n.575A>T
NM_006886.4:c.130A>T MANE Select NP_008817.1:p.Lys44Ter
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