Canonical Allele Identifier: CA6289064
Gene: APOA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2137253
ClinVar RCV Id: RCV003062458
dbSNP Id: rs781745888
ExAC: 11:116661427 A / G
gnomAD v2: 11-116661427-A-G
gnomAD v3: 11-116790711-A-G
gnomAD v4: 11-116790711-A-G
MyVariant Identifiers: chr11:g.116661427A>G (hg19) chr11:g.116790711A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116790711A>G , CM000673.2:g.116790711A>G GRCh38
NC_000011.9:g.116661427A>G , CM000673.1:g.116661427A>G GRCh37
NC_000011.8:g.116166637A>G NCBI36
NG_015894.1:g.6710T>C
NG_015894.2:g.6710T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.518T>C MANE Select ENSP00000227665.4:p.Leu173Pro
ENST00000433069.2:c.518T>C ENSP00000399701.2:p.Leu173Pro
ENST00000673688.1:c.602T>C ENSP00000501141.1:p.Leu201Pro
ENST00000227665.8:c.518T>C ENSP00000227665.4:p.Leu173Pro
ENST00000542499.5:c.518T>C ENSP00000445002.1:p.Leu173Pro
NM_001166598.1:c.518T>C NP_001160070.1:p.Leu173Pro
NM_052968.4:c.518T>C NP_443200.2:p.Leu173Pro
NM_001166598.2:c.518T>C NP_001160070.1:p.Leu173Pro
NM_001371904.1:c.518T>C MANE Select NP_001358833.1:p.Leu173Pro
NM_052968.5:c.518T>C NP_443200.2:p.Leu173Pro
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