Canonical Allele Identifier: CA127503
Gene: APOE HGNC NCBI

Linked Data

ClinVar Variation Id: 17852
ClinVar RCV Id: RCV000019433
dbSNP Id: rs397514253
MyVariant Identifiers: chr19:g.45411788A>G (hg19) chr19:g.44908531A>G (hg38)
PubMed: PMID:3029073 PMID:3771793 PMID:6795720
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908531A>G , CM000681.2:g.44908531A>G GRCh38
NC_000019.9:g.45411788A>G , CM000681.1:g.45411788A>G GRCh37
NC_000019.8:g.50103628A>G NCBI36
NG_007084.2:g.7750A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252486.9:c.237-2A>G MANE Select ENSP00000252486.3:n.237-2A>G
ENST00000252486.8:c.237-2A>G ENSP00000252486.3:n.237-2A>G
ENST00000425718.1:c.237-2A>G ENSP00000410423.1:n.237-2A>G
ENST00000434152.5:c.315-2A>G ENSP00000413653.2:n.315-2A>G
ENST00000446996.5:c.237-2A>G ENSP00000413135.1:n.237-2A>G
NM_000041.3:c.237-2A>G NP_000032.1:n.237-2A>G
NM_001302688.1:c.315-2A>G NP_001289617.1:n.315-2A>G
NM_001302689.1:c.237-2A>G NP_001289618.1:n.237-2A>G
NM_001302690.1:c.237-2A>G NP_001289619.1:n.237-2A>G
NM_001302691.1:c.237-2A>G NP_001289620.1:n.237-2A>G
NM_000041.4:c.237-2A>G MANE Select NP_000032.1:n.237-2A>G
NM_001302688.2:c.315-2A>G NP_001289617.1:n.315-2A>G
NM_001302689.2:c.237-2A>G NP_001289618.1:n.237-2A>G
NM_001302691.2:c.237-2A>G NP_001289620.1:n.237-2A>G
NM_001302690.2:c.237-2A>G NP_001289619.1:n.237-2A>G
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