Canonical Allele Identifier: CA116845

Gene: APOA5

Linked Data

• ClinVar Variation Id: 4403
• ClinVar RCV Id: RCV000004653 ; RCV002054414 ; RCV002345231 ; RCV002504745
• dbSNP Id: rs3135506
• ExAC: 11:116662407 G / C
• gnomAD v2: 11-116662407-G-C
• gnomAD v3: 11-116791691-G-C
• gnomAD v4: 11-116791691-G-C
• MyVariant Identifiers: chr11:g.116662407G>C (hg19) ; chr11:g.116791691G>C (hg38)
• PubMed: PMID:12417524 ; PMID:12417525

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116791691G>C , CM000673.2:g.116791691G>C	GRCh38
NC_000011.9:g.116662407G>C , CM000673.1:g.116662407G>C	GRCh37
NC_000011.8:g.116167617G>C	NCBI36
NG_015894.1:g.5730C>G
NG_015894.2:g.5730C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000227665.9:c.56C>G MANE Select	ENSP00000227665.4:p.Ser19Trp
ENST00000433069.2:c.56C>G	ENSP00000399701.2:p.Ser19Trp
ENST00000673688.1:c.56C>G	ENSP00000501141.1:p.Ser19Trp
ENST00000227665.8:c.56C>G	ENSP00000227665.4:p.Ser19Trp
ENST00000433069.1:c.56C>G	ENSP00000399701.1:p.Ser19Trp
ENST00000542499.5:c.56C>G	ENSP00000445002.1:p.Ser19Trp
NM_001166598.1:c.56C>G	NP_001160070.1:p.Ser19Trp
NM_052968.4:c.56C>G	NP_443200.2:p.Ser19Trp
NM_001166598.2:c.56C>G	NP_001160070.1:p.Ser19Trp
NM_001371904.1:c.56C>G MANE Select	NP_001358833.1:p.Ser19Trp
NM_052968.5:c.56C>G	NP_443200.2:p.Ser19Trp