Canonical Allele Identifier: CA2645834218
Gene: BSND HGNC NCBI

Linked Data

gnomAD v4: 1-54999103-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999103G>T , CM000663.2:g.54999103G>T GRCh38
NC_000001.10:g.55464776G>T , CM000663.1:g.55464776G>T GRCh37
NC_000001.9:g.55237364G>T NCBI36
NG_008965.1:g.5160G>T
NG_008965.2:g.5171G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.-84G>T MANE Select ENSP00000498282.1:n.-84G>T
ENST00000371265.4:c.-84G>T ENSP00000360312.4:n.-84G>T
NM_057176.2:c.-84G>T NP_476517.1:n.-84G>T
NM_057176.3:c.-84G>T MANE Select NP_476517.1:n.-84G>T