Canonical Allele Identifier: CA523275333
Gene: BSND HGNC NCBI

Linked Data

dbSNP Id: rs1349425803
gnomAD v2: 1-55464819-C-A
gnomAD v4: 1-54999146-C-A
MyVariant Identifiers: chr1:g.55464819C>A (hg19) chr1:g.54999146C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999146C>A , CM000663.2:g.54999146C>A GRCh38
NC_000001.10:g.55464819C>A , CM000663.1:g.55464819C>A GRCh37
NC_000001.9:g.55237407C>A NCBI36
NG_008965.1:g.5203C>A
NG_008965.2:g.5214C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.-41C>A MANE Select ENSP00000498282.1:n.-41C>A
ENST00000371265.4:c.-41C>A ENSP00000360312.4:n.-41C>A
NM_057176.2:c.-41C>A NP_476517.1:n.-41C>A
NM_057176.3:c.-41C>A MANE Select NP_476517.1:n.-41C>A
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