Canonical Allele Identifier: CA2581667988
Gene: BSND HGNC NCBI

Linked Data

gnomAD v4: 1-54999117-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999117C>A , CM000663.2:g.54999117C>A GRCh38
NC_000001.10:g.55464790C>A , CM000663.1:g.55464790C>A GRCh37
NC_000001.9:g.55237378C>A NCBI36
NG_008965.1:g.5174C>A
NG_008965.2:g.5185C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.-70C>A MANE Select ENSP00000498282.1:n.-70C>A
ENST00000371265.4:c.-70C>A ENSP00000360312.4:n.-70C>A
NM_057176.2:c.-70C>A NP_476517.1:n.-70C>A
NM_057176.3:c.-70C>A MANE Select NP_476517.1:n.-70C>A