Canonical Allele Identifier: CA340470553
Gene: BSND HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999219C>A , CM000663.2:g.54999219C>A GRCh38
NC_000001.10:g.55464892C>A , CM000663.1:g.55464892C>A GRCh37
NC_000001.9:g.55237480C>A NCBI36
NG_008965.1:g.5276C>A
NG_008965.2:g.5287C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.33C>A MANE Select ENSP00000498282.1:p.Phe11Leu
ENST00000371265.4:c.33C>A ENSP00000360312.4:p.Phe11Leu
NM_057176.2:c.33C>A NP_476517.1:p.Phe11Leu
NM_057176.3:c.33C>A MANE Select NP_476517.1:p.Phe11Leu