Canonical Allele Identifier: CA2574380945
Gene: BSND HGNC NCBI

Linked Data

gnomAD v4: 1-54999116-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999116T>C , CM000663.2:g.54999116T>C GRCh38
NC_000001.10:g.55464789T>C , CM000663.1:g.55464789T>C GRCh37
NC_000001.9:g.55237377T>C NCBI36
NG_008965.1:g.5173T>C
NG_008965.2:g.5184T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.-71T>C MANE Select ENSP00000498282.1:n.-71T>C
ENST00000371265.4:c.-71T>C ENSP00000360312.4:n.-71T>C
NM_057176.2:c.-71T>C NP_476517.1:n.-71T>C
NM_057176.3:c.-71T>C MANE Select NP_476517.1:n.-71T>C
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