Canonical Allele Identifier: CA304013889
Gene: ATP5F1D HGNC NCBI
ClinVar RCV:
RCV000541368
RCV000680226
ClinVar Variation:
453296
dbSNP:
867410737
gnomAD v2:
19:1242558 C / T
gnomAD v4:
chr19-1242559-C-T
Joint Max Group AF 2.9e-7 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
MyVariant.info:
GRCh38 chr19:g.1242559C>T
GRCh37 chr19:g.1242558C>T
Revel Score:
ENST00000215375 (MANE Select) 0.584
ENST00000395633 0.584
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1242559C>T , CM000681.2:g.1242559C>T GRCh38
NC_000019.9:g.1242558C>T , CM000681.1:g.1242558C>T GRCh37
NC_000019.8:g.1193558C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000215375.7:c.245C>T MANE Select ENSP00000215375.1:p.Pro82Leu
ENST00000215375.6:c.245C>T ENSP00000215375.1:p.Pro82Leu
ENST00000395633.5:c.245C>T ENSP00000378995.1:p.Pro82Leu
ENST00000588538.5:n.743C>T
ENST00000590265.5:n.790C>T
ENST00000591249.5:c.55C>T
ENST00000591660.5:c.245C>T ENSP00000464863.1:p.Pro82Leu
ENST00000592624.1:n.792C>T
NM_001001975.1:c.245C>T NP_001001975.1:p.Pro82Leu
NM_001687.4:c.245C>T NP_001678.1:p.Pro82Leu
NM_001687.5:c.245C>T MANE Select NP_001678.1:p.Pro82Leu
NM_001001975.2:c.245C>T NP_001001975.1:p.Pro82Leu
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