Canonical Allele Identifier: CA340470701
Gene: BSND HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55464956G>T (hg19) chr1:g.54999283G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999283G>T , CM000663.2:g.54999283G>T GRCh38
NC_000001.10:g.55464956G>T , CM000663.1:g.55464956G>T GRCh37
NC_000001.9:g.55237544G>T NCBI36
NG_008965.1:g.5340G>T
NG_008965.2:g.5351G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.97G>T MANE Select ENSP00000498282.1:p.Val33Phe
ENST00000371265.4:c.97G>T ENSP00000360312.4:p.Val33Phe
NM_057176.2:c.97G>T NP_476517.1:p.Val33Phe
NM_057176.3:c.97G>T MANE Select NP_476517.1:p.Val33Phe
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