Canonical Allele Identifier: CA6289062
Gene: APOA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2567122
ClinVar RCV Id: RCV003278343 RCV003549053
dbSNP Id: rs747334731
ExAC: 11:116661424 T / C
gnomAD v2: 11-116661424-T-C
gnomAD v4: 11-116790708-T-C
MyVariant Identifiers: chr11:g.116661424T>C (hg19) chr11:g.116790708T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116790708T>C , CM000673.2:g.116790708T>C GRCh38
NC_000011.9:g.116661424T>C , CM000673.1:g.116661424T>C GRCh37
NC_000011.8:g.116166634T>C NCBI36
NG_015894.1:g.6713A>G
NG_015894.2:g.6713A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.521A>G MANE Select ENSP00000227665.4:p.Gln174Arg
ENST00000433069.2:c.521A>G ENSP00000399701.2:p.Gln174Arg
ENST00000673688.1:c.605A>G ENSP00000501141.1:p.Gln202Arg
ENST00000227665.8:c.521A>G ENSP00000227665.4:p.Gln174Arg
ENST00000542499.5:c.521A>G ENSP00000445002.1:p.Gln174Arg
NM_001166598.1:c.521A>G NP_001160070.1:p.Gln174Arg
NM_052968.4:c.521A>G NP_443200.2:p.Gln174Arg
NM_001166598.2:c.521A>G NP_001160070.1:p.Gln174Arg
NM_001371904.1:c.521A>G MANE Select NP_001358833.1:p.Gln174Arg
NM_052968.5:c.521A>G NP_443200.2:p.Gln174Arg
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