Canonical Allele Identifier: CA871193
Gene: BSND HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.54999209G>A
GRCh37 chr1:g.55464882G>A
Revel Score:
ENST00000371265 0.868
gnomAD v2:
1:55464882 G / A
gnomAD v3:
1:54999209 G / A
gnomAD v4:
chr1-54999209-G-A
Joint Max Group AF 0.00040796 (SAS)
Genomes Max Group AF 0.00016873 (SAS)
Exomes Max Group AF 0.00040053 (SAS)
ClinVar RCV:
RCV002664100
RCV003491264
ClinVar Variation:
2202510
dbSNP:
74315288
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999209G>A , CM000663.2:g.54999209G>A GRCh38
NC_000001.10:g.55464882G>A , CM000663.1:g.55464882G>A GRCh37
NC_000001.9:g.55237470G>A NCBI36
NG_008965.1:g.5266G>A
NG_008965.2:g.5277G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.23G>A MANE Select ENSP00000498282.1:p.Arg8Gln
ENST00000371265.4:c.23G>A ENSP00000360312.4:p.Arg8Gln
NM_057176.2:c.23G>A NP_476517.1:p.Arg8Gln
NM_057176.3:c.23G>A MANE Select NP_476517.1:p.Arg8Gln
Search 100 bp 5'
Search 100 bp 3'