Canonical Allele Identifier: CA871217
Gene: BSND HGNC NCBI

Linked Data

ClinVar Variation Id: 227188
ClinVar RCV Id: RCV000215468 RCV000381206 RCV000725962 RCV001273284
dbSNP Id: rs141403253
ExAC: 1:55464961 C / T
gnomAD v2: 1-55464961-C-T
gnomAD v3: 1-54999288-C-T
gnomAD v4: 1-54999288-C-T
MyVariant Identifiers: chr1:g.55464961C>T (hg19) chr1:g.54999288C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999288C>T , CM000663.2:g.54999288C>T GRCh38
NC_000001.10:g.55464961C>T , CM000663.1:g.55464961C>T GRCh37
NC_000001.9:g.55237549C>T NCBI36
NG_008965.1:g.5345C>T
NG_008965.2:g.5356C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.102C>T MANE Select ENSP00000498282.1:p.Tyr34=
ENST00000371265.4:c.102C>T ENSP00000360312.4:p.Tyr34=
NM_057176.2:c.102C>T NP_476517.1:p.Tyr34=
NM_057176.3:c.102C>T MANE Select NP_476517.1:p.Tyr34=
Search 100 bp 5'
Search 100 bp 3'