Canonical Allele Identifier: CA417956544
Gene: BSND HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55464911C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999238C>T , CM000663.2:g.54999238C>T GRCh38
NC_000001.10:g.55464911C>T , CM000663.1:g.55464911C>T GRCh37
NC_000001.9:g.55237499C>T NCBI36
NG_008965.1:g.5295C>T
NG_008965.2:g.5306C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.52C>T MANE Select ENSP00000498282.1:p.Leu18=
ENST00000371265.4:c.52C>T ENSP00000360312.4:p.Leu18=
NM_057176.2:c.52C>T NP_476517.1:p.Leu18=
NM_057176.3:c.52C>T MANE Select NP_476517.1:p.Leu18=