Canonical Allele Identifier: CA417956530
Gene: BSND HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55464901G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999228G>T , CM000663.2:g.54999228G>T GRCh38
NC_000001.10:g.55464901G>T , CM000663.1:g.55464901G>T GRCh37
NC_000001.9:g.55237489G>T NCBI36
NG_008965.1:g.5285G>T
NG_008965.2:g.5296G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.42G>T MANE Select ENSP00000498282.1:p.Leu14=
ENST00000371265.4:c.42G>T ENSP00000360312.4:p.Leu14=
NM_057176.2:c.42G>T NP_476517.1:p.Leu14=
NM_057176.3:c.42G>T MANE Select NP_476517.1:p.Leu14=
Search 100 bp 5'
Search 100 bp 3'