Canonical Allele Identifier: CA116847
Gene: APOA5 HGNC NCBI
gnomAD v2:
11:116661530 G / A
gnomAD v4:
chr11-116790814-G-A
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000004654
ClinVar Variation:
4404
dbSNP:
121917821
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116790814G>A , CM000673.2:g.116790814G>A GRCh38
NC_000011.9:g.116661530G>A , CM000673.1:g.116661530G>A GRCh37
NC_000011.8:g.116166740G>A NCBI36
NG_015894.1:g.6607C>T
NG_015894.2:g.6607C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.415C>T MANE Select ENSP00000227665.4:p.Gln139Ter
ENST00000433069.2:c.415C>T ENSP00000399701.2:p.Gln139Ter
ENST00000673688.1:c.499C>T ENSP00000501141.1:p.Gln167Ter
ENST00000227665.8:c.415C>T ENSP00000227665.4:p.Gln139Ter
ENST00000433069.1:c.415C>T ENSP00000399701.1:p.Gln139Ter
ENST00000542499.5:c.415C>T ENSP00000445002.1:p.Gln139Ter
NM_001166598.1:c.415C>T NP_001160070.1:p.Gln139Ter
NM_052968.4:c.415C>T NP_443200.2:p.Gln139Ter
NM_001166598.2:c.415C>T NP_001160070.1:p.Gln139Ter
NM_001371904.1:c.415C>T MANE Select NP_001358833.1:p.Gln139Ter
NM_052968.5:c.415C>T NP_443200.2:p.Gln139Ter
Search 100 bp 5'
Search 100 bp 3'