Canonical Allele Identifier: CA138597

Gene: BSND

Linked Data

• ClinVar Variation Id: 46545
• ClinVar RCV Id: RCV000039815 ; RCV000288895 ; RCV000710755 ; RCV001273325
• dbSNP Id: rs34561376
• ExAC: 1:55464986 G / A
• gnomAD v2: 1-55464986-G-A
• gnomAD v3: 1-54999313-G-A
• gnomAD v4: 1-54999313-G-A
• MyVariant Identifiers: chr1:g.55464986G>A (hg19) ; chr1:g.54999313G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54999313G>A , CM000663.2:g.54999313G>A	GRCh38
NC_000001.10:g.55464986G>A , CM000663.1:g.55464986G>A	GRCh37
NC_000001.9:g.55237574G>A	NCBI36
NG_008965.1:g.5370G>A
NG_008965.2:g.5381G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651561.1:c.127G>A MANE Select	ENSP00000498282.1:p.Val43Ile
ENST00000371265.4:c.127G>A	ENSP00000360312.4:p.Val43Ile
NM_057176.2:c.127G>A	NP_476517.1:p.Val43Ile
NM_057176.3:c.127G>A MANE Select	NP_476517.1:p.Val43Ile