Canonical Allele Identifier: CA511089879
Gene: ATP5F1E HGNC NCBI

Linked Data

dbSNP Id: rs1601243659
MyVariant Identifiers: chr20:g.57605382A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59030327A>T , CM000682.2:g.59030327A>T GRCh38
NC_000020.10:g.57605382A>T , CM000682.1:g.57605382A>T GRCh37
NC_000020.9:g.57038777A>T NCBI36
NG_031871.1:g.7041T>A
NG_031871.2:g.7041T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000243997.8:c.135T>A MANE Select ENSP00000243997.3:p.Ile45=
ENST00000243997.7:c.135T>A ENSP00000243997.3:p.Ile45=
ENST00000395659.1:c.135T>A ENSP00000379019.1:p.Ile45=
ENST00000395663.1:c.135T>A ENSP00000379023.1:p.Ile45=
NM_006886.3:c.135T>A NP_008817.1:p.Ile45=
NR_037929.1:n.839T>A
NR_037930.1:n.580T>A
NM_006886.4:c.135T>A MANE Select NP_008817.1:p.Ile45=