Canonical Allele Identifier: CA417956528
Gene: BSND HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55464901G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.42G>A MANE Select ENSP00000498282.1:p.Leu14=
ENST00000371265.4:c.42G>A ENSP00000360312.4:p.Leu14=
NM_057176.2:c.42G>A NP_476517.1:p.Leu14=
NM_057176.3:c.42G>A MANE Select NP_476517.1:p.Leu14=