Canonical Allele Identifier: CA6289195
Gene: APOA5 HGNC NCBI
COSMIC:
COSN15662974 (not active)
gnomAD v2:
11:116662579 C / T
gnomAD v3:
11:116791863 C / T
gnomAD v4:
chr11-116791863-C-T
Joint Max Group AF 0.93692051 (NFE)
Genomes Max Group AF 0.92831034 (NFE)
Exomes Max Group AF 0.93712016 (NFE)
ClinVar RCV:
RCV001699893
ClinVar Variation:
1284811
dbSNP:
651821
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116791863C>T , CM000673.2:g.116791863C>T GRCh38
NC_000011.9:g.116662579C>T , CM000673.1:g.116662579C>T GRCh37
NC_000011.8:g.116167789C>T NCBI36
NG_015894.2:g.5558G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.-3G>A MANE Select ENSP00000227665.4:n.-3G>A
ENST00000433069.2:c.-3G>A ENSP00000399701.2:n.-3G>A
ENST00000673688.1:c.-3G>A ENSP00000501141.1:n.-3G>A
ENST00000227665.8:c.-3G>A ENSP00000227665.4:n.-3G>A
ENST00000433069.1:c.-3G>A ENSP00000399701.1:n.-3G>A
ENST00000542499.5:c.-3G>A ENSP00000445002.1:n.-3G>A
NM_001166598.2:c.-3G>A NP_001160070.1:n.-3G>A
NM_001371904.1:c.-3G>A MANE Select NP_001358833.1:n.-3G>A
NM_052968.5:c.-3G>A NP_443200.2:n.-3G>A
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