Canonical Allele Identifier: CA406306071
Gene: APOE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44909248T>A , CM000681.2:g.44909248T>A GRCh38
NC_000019.9:g.45412505T>A , CM000681.1:g.45412505T>A GRCh37
NC_000019.8:g.50104345T>A NCBI36
NG_007084.2:g.8467T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252486.9:c.952T>A MANE Select ENSP00000252486.3:p.Ter318Arg
ENST00000252486.8:c.952T>A ENSP00000252486.3:p.Ter318Arg
NM_000041.3:c.952T>A NP_000032.1:p.Ter318Arg
NM_001302688.1:c.1030T>A NP_001289617.1:p.Ter344Arg
NM_001302689.1:c.952T>A NP_001289618.1:p.Ter318Arg
NM_001302690.1:c.952T>A NP_001289619.1:p.Ter318Arg
NM_001302691.1:c.952T>A NP_001289620.1:p.Ter318Arg
NM_000041.4:c.952T>A MANE Select NP_000032.1:p.Ter318Arg
NM_001302688.2:c.1030T>A NP_001289617.1:p.Ter344Arg
NM_001302689.2:c.952T>A NP_001289618.1:p.Ter318Arg
NM_001302691.2:c.952T>A NP_001289620.1:p.Ter318Arg
NM_001302690.2:c.952T>A NP_001289619.1:p.Ter318Arg