Canonical Allele Identifier: CA116843
Gene: APOA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 4402
ClinVar RCV Id: RCV001262207 RCV001650829 RCV002345230 RCV004525843
dbSNP Id: rs2075291
ExAC: 11:116661392 C / A
gnomAD v2: 11-116661392-C-A
gnomAD v3: 11-116790676-C-A
gnomAD v4: 11-116790676-C-A
MyVariant Identifiers: chr11:g.116661392C>A (hg19) chr11:g.116790676C>A (hg38)
PubMed: PMID:12915450
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116790676C>A , CM000673.2:g.116790676C>A GRCh38
NC_000011.9:g.116661392C>A , CM000673.1:g.116661392C>A GRCh37
NC_000011.8:g.116166602C>A NCBI36
NG_015894.1:g.6745G>T
NG_015894.2:g.6745G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.553G>T MANE Select ENSP00000227665.4:p.Gly185Cys
ENST00000433069.2:c.553G>T ENSP00000399701.2:p.Gly185Cys
ENST00000673688.1:c.637G>T ENSP00000501141.1:p.Gly213Cys
ENST00000227665.8:c.553G>T ENSP00000227665.4:p.Gly185Cys
ENST00000542499.5:c.553G>T ENSP00000445002.1:p.Gly185Cys
NM_001166598.1:c.553G>T NP_001160070.1:p.Gly185Cys
NM_052968.4:c.553G>T NP_443200.2:p.Gly185Cys
NM_001166598.2:c.553G>T NP_001160070.1:p.Gly185Cys
NM_001371904.1:c.553G>T MANE Select NP_001358833.1:p.Gly185Cys
NM_052968.5:c.553G>T NP_443200.2:p.Gly185Cys
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