Canonical Allele Identifier: CA22764012
Gene: BSND HGNC NCBI

Linked Data

dbSNP Id: rs942566338
gnomAD v4: 1-54999172-A-C
MyVariant Identifiers: chr1:g.54999172A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999172A>C , CM000663.2:g.54999172A>C GRCh38
NC_000001.10:g.55464845A>C , CM000663.1:g.55464845A>C GRCh37
NC_000001.9:g.55237433A>C NCBI36
NG_008965.1:g.5229A>C
NG_008965.2:g.5240A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.-15A>C MANE Select ENSP00000498282.1:n.-15A>C
ENST00000371265.4:c.-15A>C ENSP00000360312.4:n.-15A>C
NM_057176.2:c.-15A>C NP_476517.1:n.-15A>C
NM_057176.3:c.-15A>C MANE Select NP_476517.1:n.-15A>C
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