Canonical Allele Identifier: CA116804
Gene: BSND HGNC NCBI

Linked Data

ClinVar Variation Id: 4380
ClinVar RCV Id: RCV000004630 RCV001579751
dbSNP Id: rs74315284
gnomAD v2: 1-55464860-A-T
gnomAD v4: 1-54999187-A-T
MyVariant Identifiers: chr1:g.55464860A>T (hg19) chr1:g.54999187A>T (hg38)
PubMed: PMID:11687798
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999187A>T , CM000663.2:g.54999187A>T GRCh38
NC_000001.10:g.55464860A>T , CM000663.1:g.55464860A>T GRCh37
NC_000001.9:g.55237448A>T NCBI36
NG_008965.1:g.5244A>T
NG_008965.2:g.5255A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000651561.1:c.1A>T MANE Select ENSP00000498282.1:p.Met1Leu
ENST00000371265.4:c.1A>T ENSP00000360312.4:p.Met1Leu
NM_057176.2:c.1A>T NP_476517.1:p.Met1Leu
NM_057176.3:c.1A>T MANE Select NP_476517.1:p.Met1Leu
Search 100 bp 5'
Search 100 bp 3'