Canonical Allele Identifier: CA2574380948
Gene: BSND HGNC NCBI

Linked Data

gnomAD v4: 1-54999135-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999135A>G , CM000663.2:g.54999135A>G GRCh38
NC_000001.10:g.55464808A>G , CM000663.1:g.55464808A>G GRCh37
NC_000001.9:g.55237396A>G NCBI36
NG_008965.1:g.5192A>G
NG_008965.2:g.5203A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.-52A>G MANE Select ENSP00000498282.1:n.-52A>G
ENST00000371265.4:c.-52A>G ENSP00000360312.4:n.-52A>G
NM_057176.2:c.-52A>G NP_476517.1:n.-52A>G
NM_057176.3:c.-52A>G MANE Select NP_476517.1:n.-52A>G