Canonical Allele Identifier: CA417956533
Gene: BSND HGNC NCBI

Linked Data

ClinVar Variation Id: 2764061
ClinVar RCV Id: RCV003572338
MyVariant Identifiers: chr1:g.55464904G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999231G>A , CM000663.2:g.54999231G>A GRCh38
NC_000001.10:g.55464904G>A , CM000663.1:g.55464904G>A GRCh37
NC_000001.9:g.55237492G>A NCBI36
NG_008965.1:g.5288G>A
NG_008965.2:g.5299G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.45G>A MANE Select ENSP00000498282.1:p.Gly15=
ENST00000371265.4:c.45G>A ENSP00000360312.4:p.Gly15=
NM_057176.2:c.45G>A NP_476517.1:p.Gly15=
NM_057176.3:c.45G>A MANE Select NP_476517.1:p.Gly15=
Search 100 bp 5'
Search 100 bp 3'