Canonical Allele Identifier: CA1141815975
Gene: BSND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999249C= , CM000663.2:g.54999249C= GRCh38
NC_000001.10:g.55464922C= , CM000663.1:g.55464922C= GRCh37
NC_000001.9:g.55237510C= NCBI36
NG_008965.1:g.5306C=
NG_008965.2:g.5317C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.63C= MANE Select ENSP00000498282.1:p.Leu21=
ENST00000371265.4:c.63C= ENSP00000360312.4:p.Leu21=
NM_057176.2:c.63C= NP_476517.1:p.Leu21=
NM_057176.3:c.63C= MANE Select NP_476517.1:p.Leu21=