Canonical Allele Identifier: CA942582827
Gene: APOA5 HGNC NCBI

Linked Data

dbSNP Id: rs1940961217
gnomAD v3: 11-116789880-T-G
gnomAD v4: 11-116789880-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116789880T>G , CM000673.2:g.116789880T>G GRCh38
NC_000011.9:g.116660596T>G , CM000673.1:g.116660596T>G GRCh37
NC_000011.8:g.116165806T>G NCBI36
NG_015894.1:g.7541A>C
NG_015894.2:g.7541A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000227665.9:c.*248A>C MANE Select ENSP00000227665.4:n.*248A>C
ENST00000227665.8:c.*248A>C ENSP00000227665.4:n.*248A>C
ENST00000542499.5:c.*248A>C ENSP00000445002.1:n.*248A>C
NM_001166598.1:c.*248A>C NP_001160070.1:n.*248A>C
NM_052968.4:c.*248A>C NP_443200.2:n.*248A>C
NM_001166598.2:c.*248A>C NP_001160070.1:n.*248A>C
NM_001371904.1:c.*248A>C MANE Select NP_001358833.1:n.*248A>C
NM_052968.5:c.*248A>C NP_443200.2:n.*248A>C
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