Canonical Allele Identifier: CA116807
Gene: BSND HGNC NCBI

Linked Data

ClinVar Variation Id: 4384
ClinVar RCV Id: RCV000004634 RCV001057884 RCV001272340
dbSNP Id: rs74315286
ExAC: 1:55464862 G / A
gnomAD v2: 1-55464862-G-A
gnomAD v3: 1-54999189-G-A
gnomAD v4: 1-54999189-G-A
MyVariant Identifiers: chr1:g.55464862G>A (hg19) chr1:g.54999189G>A (hg38)
PubMed: PMID:11687798
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999189G>A , CM000663.2:g.54999189G>A GRCh38
NC_000001.10:g.55464862G>A , CM000663.1:g.55464862G>A GRCh37
NC_000001.9:g.55237450G>A NCBI36
NG_008965.1:g.5246G>A
NG_008965.2:g.5257G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000651561.1:c.3G>A MANE Select ENSP00000498282.1:p.Met1Ile
ENST00000371265.4:c.3G>A ENSP00000360312.4:p.Met1Ile
NM_057176.2:c.3G>A NP_476517.1:p.Met1Ile
NM_057176.3:c.3G>A MANE Select NP_476517.1:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'