Canonical Allele Identifier: CA13493256
Gene: BACE1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs535860

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117289162A>T , CM000673.2:g.117289162A>T GRCh38
NC_000011.9:g.117159878A>T , CM000673.1:g.117159878A>T GRCh37
NC_000011.8:g.116665088A>T NCBI36
NG_029372.1:g.32095T>A

Transcript Alleles

HGVS Amino-acid change
NM_001207048.1:c.*404T>A VV NP_001193977.1:p.=
NM_001207049.1:c.*404T>A VV NP_001193978.1:p.=
NM_012104.4:c.*404T>A VV NP_036236.1:p.=
NM_138971.3:c.*404T>A VV NP_620427.1:p.=
NM_138972.3:c.*404T>A VV NP_620428.1:p.=
NM_138973.3:c.*404T>A VV NP_620429.1:p.=
ENST00000313005.10:c.*404T>A ENSP00000318585.6:p.=
ENST00000392937.10:c.*404T>A ENSP00000475405.1:p.=
ENST00000528053.5:c.*404T>A ENSP00000431848.1:p.=