Canonical Allele Identifier: CA409468957
Gene: ATP5F1E HGNC NCBI

Linked Data

dbSNP Id: rs1210847146
gnomAD v2: 20-57605383-A-G
gnomAD v4: 20-59030328-A-G
MyVariant Identifiers: chr20:g.57605383A>G (hg19) chr20:g.59030328A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59030328A>G , CM000682.2:g.59030328A>G GRCh38
NC_000020.10:g.57605383A>G , CM000682.1:g.57605383A>G GRCh37
NC_000020.9:g.57038778A>G NCBI36
NG_031871.1:g.7040T>C
NG_031871.2:g.7040T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000243997.8:c.134T>C MANE Select ENSP00000243997.3:p.Ile45Thr
ENST00000243997.7:c.134T>C ENSP00000243997.3:p.Ile45Thr
ENST00000395659.1:c.134T>C ENSP00000379019.1:p.Ile45Thr
ENST00000395663.1:c.134T>C ENSP00000379023.1:p.Ile45Thr
NM_006886.3:c.134T>C NP_008817.1:p.Ile45Thr
NR_037929.1:n.838T>C
NR_037930.1:n.579T>C
NM_006886.4:c.134T>C MANE Select NP_008817.1:p.Ile45Thr
Search 100 bp 5'
Search 100 bp 3'