Canonical Allele Identifier: CA9928731
Gene: ATP5F1E HGNC NCBI

Linked Data

dbSNP Id: rs141894687
ExAC: 20:57605390 C / T
gnomAD v2: 20-57605390-C-T
gnomAD v3: 20-59030335-C-T
gnomAD v4: 20-59030335-C-T
MyVariant Identifiers: chr20:g.57605390C>T (hg19) chr20:g.59030335C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59030335C>T , CM000682.2:g.59030335C>T GRCh38
NC_000020.10:g.57605390C>T , CM000682.1:g.57605390C>T GRCh37
NC_000020.9:g.57038785C>T NCBI36
NG_031871.1:g.7033G>A
NG_031871.2:g.7033G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000243997.8:c.127G>A MANE Select ENSP00000243997.3:p.Val43Ile
ENST00000243997.7:c.127G>A ENSP00000243997.3:p.Val43Ile
ENST00000395659.1:c.127G>A ENSP00000379019.1:p.Val43Ile
ENST00000395663.1:c.127G>A ENSP00000379023.1:p.Val43Ile
NM_006886.3:c.127G>A NP_008817.1:p.Val43Ile
NR_037929.1:n.831G>A
NR_037930.1:n.572G>A
NM_006886.4:c.127G>A MANE Select NP_008817.1:p.Val43Ile
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