Canonical Allele Identifier: CA417956579
Gene: BSND HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55464949G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999276G>C , CM000663.2:g.54999276G>C GRCh38
NC_000001.10:g.55464949G>C , CM000663.1:g.55464949G>C GRCh37
NC_000001.9:g.55237537G>C NCBI36
NG_008965.1:g.5333G>C
NG_008965.2:g.5344G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.90G>C MANE Select ENSP00000498282.1:p.Arg30=
ENST00000371265.4:c.90G>C ENSP00000360312.4:p.Arg30=
NM_057176.2:c.90G>C NP_476517.1:p.Arg30=
NM_057176.3:c.90G>C MANE Select NP_476517.1:p.Arg30=