Canonical Allele Identifier: CA2645834245
Gene: BSND HGNC NCBI

Linked Data

gnomAD v4: 1-54999139-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999139C>T , CM000663.2:g.54999139C>T GRCh38
NC_000001.10:g.55464812C>T , CM000663.1:g.55464812C>T GRCh37
NC_000001.9:g.55237400C>T NCBI36
NG_008965.1:g.5196C>T
NG_008965.2:g.5207C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.-48C>T MANE Select ENSP00000498282.1:n.-48C>T
ENST00000371265.4:c.-48C>T ENSP00000360312.4:n.-48C>T
NM_057176.2:c.-48C>T NP_476517.1:n.-48C>T
NM_057176.3:c.-48C>T MANE Select NP_476517.1:n.-48C>T
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