Canonical Allele Identifier: CA116811
Gene: BSND HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.54999325G>A
GRCh37 chr1:g.55464998G>A
Revel Score:
ENST00000371265 0.495
gnomAD v2:
1:55464998 G / A
gnomAD v3:
1:54999325 G / A
gnomAD v4:
chr1-54999325-G-A
Joint Max Group AF 0.00021299 (NFE)
Genomes Max Group AF 0.00012401 (NFE)
Exomes Max Group AF 0.00021445 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999325G>A , CM000663.2:g.54999325G>A GRCh38
NC_000001.10:g.55464998G>A , CM000663.1:g.55464998G>A GRCh37
NC_000001.9:g.55237586G>A NCBI36
NG_008965.1:g.5382G>A
NG_008965.2:g.5393G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.139G>A MANE Select ENSP00000498282.1:p.Gly47Arg
ENST00000371265.4:c.139G>A ENSP00000360312.4:p.Gly47Arg
NM_057176.2:c.139G>A NP_476517.1:p.Gly47Arg
NM_057176.3:c.139G>A MANE Select NP_476517.1:p.Gly47Arg
Search 100 bp 5'
Search 100 bp 3'