Canonical Allele Identifier: CA116806
Gene: BSND HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.54999208C>T
GRCh37 chr1:g.55464881C>T
Revel Score:
ENST00000371265 0.916
gnomAD v2:
1:55464881 C / T
gnomAD v3:
1:54999208 C / T
gnomAD v4:
chr1-54999208-C-T
Joint Max Group AF 0.00002978 (EAS)
Genomes Max Group AF 0.0001582 (EAS)
Exomes Max Group AF 0.00001914 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999208C>T , CM000663.2:g.54999208C>T GRCh38
NC_000001.10:g.55464881C>T , CM000663.1:g.55464881C>T GRCh37
NC_000001.9:g.55237469C>T NCBI36
NG_008965.1:g.5265C>T
NG_008965.2:g.5276C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.22C>T MANE Select ENSP00000498282.1:p.Arg8Trp
ENST00000371265.4:c.22C>T ENSP00000360312.4:p.Arg8Trp
NM_057176.2:c.22C>T NP_476517.1:p.Arg8Trp
NM_057176.3:c.22C>T MANE Select NP_476517.1:p.Arg8Trp
Search 100 bp 5'
Search 100 bp 3'