Canonical Allele Identifier: CA406306025
Gene: APOE HGNC NCBI

Linked Data

dbSNP Id: rs1051068315
MyVariant Identifiers: chr19:g.45412495C>G (hg19) chr19:g.44909238C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44909238C>G , CM000681.2:g.44909238C>G GRCh38
NC_000019.9:g.45412495C>G , CM000681.1:g.45412495C>G GRCh37
NC_000019.8:g.50104335C>G NCBI36
NG_007084.2:g.8457C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252486.9:c.942C>G MANE Select ENSP00000252486.3:p.Ser314Arg
ENST00000252486.8:c.942C>G ENSP00000252486.3:p.Ser314Arg
NM_000041.3:c.942C>G NP_000032.1:p.Ser314Arg
NM_001302688.1:c.1020C>G NP_001289617.1:p.Ser340Arg
NM_001302689.1:c.942C>G NP_001289618.1:p.Ser314Arg
NM_001302690.1:c.942C>G NP_001289619.1:p.Ser314Arg
NM_001302691.1:c.942C>G NP_001289620.1:p.Ser314Arg
NM_000041.4:c.942C>G MANE Select NP_000032.1:p.Ser314Arg
NM_001302688.2:c.1020C>G NP_001289617.1:p.Ser340Arg
NM_001302689.2:c.942C>G NP_001289618.1:p.Ser314Arg
NM_001302691.2:c.942C>G NP_001289620.1:p.Ser314Arg
NM_001302690.2:c.942C>G NP_001289619.1:p.Ser314Arg
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