Canonical Allele Identifier: CA6288954
Gene: APOA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 496500
ClinVar RCV Id: RCV000585917 RCV002377220
dbSNP Id: rs201201147
ExAC: 11:116660983 T / A
gnomAD v2: 11-116660983-T-A
gnomAD v3: 11-116790267-T-A
gnomAD v4: 11-116790267-T-A
MyVariant Identifiers: chr11:g.116660983T>A (hg19) chr11:g.116790267T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116790267T>A , CM000673.2:g.116790267T>A GRCh38
NC_000011.9:g.116660983T>A , CM000673.1:g.116660983T>A GRCh37
NC_000011.8:g.116166193T>A NCBI36
NG_015894.1:g.7154A>T
NG_015894.2:g.7154A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.962A>T MANE Select ENSP00000227665.4:p.His321Leu
ENST00000433069.2:c.962A>T ENSP00000399701.2:p.His321Leu
ENST00000673688.1:c.1046A>T ENSP00000501141.1:p.His349Leu
ENST00000227665.8:c.962A>T ENSP00000227665.4:p.His321Leu
ENST00000542499.5:c.962A>T ENSP00000445002.1:p.His321Leu
NM_001166598.1:c.962A>T NP_001160070.1:p.His321Leu
NM_052968.4:c.962A>T NP_443200.2:p.His321Leu
NM_001166598.2:c.962A>T NP_001160070.1:p.His321Leu
NM_001371904.1:c.962A>T MANE Select NP_001358833.1:p.His321Leu
NM_052968.5:c.962A>T NP_443200.2:p.His321Leu
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