Canonical Allele Identifier: CA340470405
Gene: BSND HGNC NCBI

Linked Data

dbSNP Id: rs1396121317
gnomAD v2: 1-55464861-T-A
gnomAD v3: 1-54999188-T-A
gnomAD v4: 1-54999188-T-A
MyVariant Identifiers: chr1:g.55464861T>A (hg19) chr1:g.54999188T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999188T>A , CM000663.2:g.54999188T>A GRCh38
NC_000001.10:g.55464861T>A , CM000663.1:g.55464861T>A GRCh37
NC_000001.9:g.55237449T>A NCBI36
NG_008965.1:g.5245T>A
NG_008965.2:g.5256T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.2T>A MANE Select ENSP00000498282.1:p.Met1Lys
ENST00000371265.4:c.2T>A ENSP00000360312.4:p.Met1Lys
NM_057176.2:c.2T>A NP_476517.1:p.Met1Lys
NM_057176.3:c.2T>A MANE Select NP_476517.1:p.Met1Lys
Search 100 bp 5'
Search 100 bp 3'