Canonical Allele Identifier: CA871190
Gene: BSND HGNC NCBI

Linked Data

ClinVar Variation Id: 290808
ClinVar RCV Id: RCV000281858 RCV001100683 RCV001835772 RCV003967804
dbSNP Id: rs201342416
ExAC: 1:55464875 A / G
gnomAD v2: 1-55464875-A-G
gnomAD v3: 1-54999202-A-G
gnomAD v4: 1-54999202-A-G
MyVariant Identifiers: chr1:g.55464875A>G (hg19) chr1:g.55464875_55464876delinsGC (hg19) chr1:g.54999202A>G (hg38) chr1:g.54999202_54999203delinsGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999202A>G , CM000663.2:g.54999202A>G GRCh38
NC_000001.10:g.55464875A>G , CM000663.1:g.55464875A>G GRCh37
NC_000001.9:g.55237463A>G NCBI36
NG_008965.1:g.5259A>G
NG_008965.2:g.5270A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.16A>G MANE Select ENSP00000498282.1:p.Thr6Ala
ENST00000371265.4:c.16A>G ENSP00000360312.4:p.Thr6Ala
NM_057176.2:c.16A>G NP_476517.1:p.Thr6Ala
NM_057176.3:c.16A>G MANE Select NP_476517.1:p.Thr6Ala
Search 100 bp 5'
Search 100 bp 3'