Canonical Allele Identifier: CA417956540
Gene: BSND HGNC NCBI

Linked Data

ClinVar Variation Id: 1528546
ClinVar RCV Id: RCV002077541
dbSNP Id: rs2101644390
MyVariant Identifiers: chr1:g.55464910C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999237C>T , CM000663.2:g.54999237C>T GRCh38
NC_000001.10:g.55464910C>T , CM000663.1:g.55464910C>T GRCh37
NC_000001.9:g.55237498C>T NCBI36
NG_008965.1:g.5294C>T
NG_008965.2:g.5305C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.51C>T MANE Select ENSP00000498282.1:p.Phe17=
ENST00000371265.4:c.51C>T ENSP00000360312.4:p.Phe17=
NM_057176.2:c.51C>T NP_476517.1:p.Phe17=
NM_057176.3:c.51C>T MANE Select NP_476517.1:p.Phe17=
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Search 100 bp 3'