Canonical Allele Identifier: CA340470639

Gene: BSND

Linked Data

• dbSNP Id: rs2101644416
• MyVariant Identifiers: chr1:g.55464929T>A (hg19) ; chr1:g.54999256T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54999256T>A , CM000663.2:g.54999256T>A	GRCh38
NC_000001.10:g.55464929T>A , CM000663.1:g.55464929T>A	GRCh37
NC_000001.9:g.55237517T>A	NCBI36
NG_008965.1:g.5313T>A
NG_008965.2:g.5324T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651561.1:c.70T>A MANE Select	ENSP00000498282.1:p.Phe24Ile
ENST00000371265.4:c.70T>A	ENSP00000360312.4:p.Phe24Ile
NM_057176.2:c.70T>A	NP_476517.1:p.Phe24Ile
NM_057176.3:c.70T>A MANE Select	NP_476517.1:p.Phe24Ile