Canonical Allele Identifier: CA417956576
Gene: BSND HGNC NCBI

Linked Data

ClinVar Variation Id: 1610608
ClinVar RCV Id: RCV002155516
dbSNP Id: rs2101644428
MyVariant Identifiers: chr1:g.55464943T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999270T>C , CM000663.2:g.54999270T>C GRCh38
NC_000001.10:g.55464943T>C , CM000663.1:g.55464943T>C GRCh37
NC_000001.9:g.55237531T>C NCBI36
NG_008965.1:g.5327T>C
NG_008965.2:g.5338T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.84T>C MANE Select ENSP00000498282.1:p.His28=
ENST00000371265.4:c.84T>C ENSP00000360312.4:p.His28=
NM_057176.2:c.84T>C NP_476517.1:p.His28=
NM_057176.3:c.84T>C MANE Select NP_476517.1:p.His28=
Search 100 bp 5'
Search 100 bp 3'