Canonical Allele Identifier: CA871203
Gene: BSND HGNC NCBI

Linked Data

ClinVar Variation Id: 992426
ClinVar RCV Id: RCV001280872
dbSNP Id: rs145048739
ExAC: 1:55464923 G / C
gnomAD v2: 1-55464923-G-C
gnomAD v4: 1-54999250-G-C
MyVariant Identifiers: chr1:g.55464923G>C (hg19) chr1:g.54999250G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999250G>C , CM000663.2:g.54999250G>C GRCh38
NC_000001.10:g.55464923G>C , CM000663.1:g.55464923G>C GRCh37
NC_000001.9:g.55237511G>C NCBI36
NG_008965.1:g.5307G>C
NG_008965.2:g.5318G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.64G>C MANE Select ENSP00000498282.1:p.Gly22Arg
ENST00000371265.4:c.64G>C ENSP00000360312.4:p.Gly22Arg
NM_057176.2:c.64G>C NP_476517.1:p.Gly22Arg
NM_057176.3:c.64G>C MANE Select NP_476517.1:p.Gly22Arg
Search 100 bp 5'
Search 100 bp 3'