Canonical Allele Identifier: CA229336900
Gene: APOA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1206592
ClinVar RCV Id: RCV001574293
dbSNP Id: rs114627122
gnomAD v2: 11-116660672-G-A
gnomAD v3: 11-116789956-G-A
gnomAD v4: 11-116789956-G-A
MyVariant Identifiers: chr11:g.116660672G>A (hg19) chr11:g.116789956G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116789956G>A , CM000673.2:g.116789956G>A GRCh38
NC_000011.9:g.116660672G>A , CM000673.1:g.116660672G>A GRCh37
NC_000011.8:g.116165882G>A NCBI36
NG_015894.1:g.7465C>T
NG_015894.2:g.7465C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000227665.9:c.*172C>T MANE Select ENSP00000227665.4:n.*172C>T
ENST00000433069.2:c.*172C>T ENSP00000399701.2:n.*172C>T
ENST00000227665.8:c.*172C>T ENSP00000227665.4:n.*172C>T
ENST00000542499.5:c.*172C>T ENSP00000445002.1:n.*172C>T
NM_001166598.1:c.*172C>T NP_001160070.1:n.*172C>T
NM_052968.4:c.*172C>T NP_443200.2:n.*172C>T
NM_001166598.2:c.*172C>T NP_001160070.1:n.*172C>T
NM_001371904.1:c.*172C>T MANE Select NP_001358833.1:n.*172C>T
NM_052968.5:c.*172C>T NP_443200.2:n.*172C>T
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