Canonical Allele Identifier: CA871212
Gene: BSND HGNC NCBI

Linked Data

ClinVar Variation Id: 2164393
ClinVar RCV Id: RCV003082086
dbSNP Id: rs201119972
ExAC: 1:55464948 G / A
gnomAD v2: 1-55464948-G-A
gnomAD v3: 1-54999275-G-A
gnomAD v4: 1-54999275-G-A
COSMIC: COSM910972
MyVariant Identifiers: chr1:g.55464948G>A (hg19) chr1:g.54999275G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999275G>A , CM000663.2:g.54999275G>A GRCh38
NC_000001.10:g.55464948G>A , CM000663.1:g.55464948G>A GRCh37
NC_000001.9:g.55237536G>A NCBI36
NG_008965.1:g.5332G>A
NG_008965.2:g.5343G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.89G>A MANE Select ENSP00000498282.1:p.Arg30Gln
ENST00000371265.4:c.89G>A ENSP00000360312.4:p.Arg30Gln
NM_057176.2:c.89G>A NP_476517.1:p.Arg30Gln
NM_057176.3:c.89G>A MANE Select NP_476517.1:p.Arg30Gln
Search 100 bp 5'
Search 100 bp 3'