Canonical Allele Identifier: CA409468977
Gene: ATP5F1E HGNC NCBI

Linked Data

dbSNP Id: rs1601243678
gnomAD v4: 20-59030337-T-C
MyVariant Identifiers: chr20:g.57605392T>C (hg19) chr20:g.59030337T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59030337T>C , CM000682.2:g.59030337T>C GRCh38
NC_000020.10:g.57605392T>C , CM000682.1:g.57605392T>C GRCh37
NC_000020.9:g.57038787T>C NCBI36
NG_031871.1:g.7031A>G
NG_031871.2:g.7031A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000243997.8:c.125A>G MANE Select ENSP00000243997.3:p.Asn42Ser
ENST00000243997.7:c.125A>G ENSP00000243997.3:p.Asn42Ser
ENST00000395659.1:c.125A>G ENSP00000379019.1:p.Asn42Ser
ENST00000395663.1:c.125A>G ENSP00000379023.1:p.Asn42Ser
NM_006886.3:c.125A>G NP_008817.1:p.Asn42Ser
NR_037929.1:n.829A>G
NR_037930.1:n.570A>G
NM_006886.4:c.125A>G MANE Select NP_008817.1:p.Asn42Ser
Search 100 bp 5'
Search 100 bp 3'