Canonical Allele Identifier: CA1001926340
Gene: BSND HGNC NCBI

Linked Data

dbSNP Id: rs575695982
gnomAD v3: 1-54999109-G-T
gnomAD v4: 1-54999109-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999109G>T , CM000663.2:g.54999109G>T GRCh38
NC_000001.10:g.55464782G>T , CM000663.1:g.55464782G>T GRCh37
NC_000001.9:g.55237370G>T NCBI36
NG_008965.1:g.5166G>T
NG_008965.2:g.5177G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.-78G>T MANE Select ENSP00000498282.1:n.-78G>T
ENST00000371265.4:c.-78G>T ENSP00000360312.4:n.-78G>T
NM_057176.2:c.-78G>T NP_476517.1:n.-78G>T
NM_057176.3:c.-78G>T MANE Select NP_476517.1:n.-78G>T
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