Canonical Allele Identifier: CA6289167
Gene: APOA5 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.116791691G>A
GRCh37 chr11:g.116662407G>A
Revel Score:
ENST00000227665 (MANE Select) 0.215
ENST00000542499 0.215
ENST00000433069 0.215
gnomAD v2:
11:116662407 G / A
gnomAD v3:
11:116791691 G / A
gnomAD v4:
chr11-116791691-G-A
Joint Max Group AF 0.00015502 (AFR)
Genomes Max Group AF 0.00011267 (AFR)
Exomes Max Group AF 0.00014054 (AFR)
ClinVar RCV:
RCV002347556
RCV003103218
ClinVar Variation:
1749156
dbSNP:
3135506
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.56C>T MANE Select ENSP00000227665.4:p.Ser19Leu
ENST00000433069.2:c.56C>T ENSP00000399701.2:p.Ser19Leu
ENST00000673688.1:c.56C>T ENSP00000501141.1:p.Ser19Leu
ENST00000227665.8:c.56C>T ENSP00000227665.4:p.Ser19Leu
ENST00000433069.1:c.56C>T ENSP00000399701.1:p.Ser19Leu
ENST00000542499.5:c.56C>T ENSP00000445002.1:p.Ser19Leu
NM_001166598.1:c.56C>T NP_001160070.1:p.Ser19Leu
NM_052968.4:c.56C>T NP_443200.2:p.Ser19Leu
NM_001166598.2:c.56C>T NP_001160070.1:p.Ser19Leu
NM_001371904.1:c.56C>T MANE Select NP_001358833.1:p.Ser19Leu
NM_052968.5:c.56C>T NP_443200.2:p.Ser19Leu
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