Canonical Allele Identifier: CA340470417
Gene: BSND HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55464863G>T (hg19) chr1:g.54999190G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999190G>T , CM000663.2:g.54999190G>T GRCh38
NC_000001.10:g.55464863G>T , CM000663.1:g.55464863G>T GRCh37
NC_000001.9:g.55237451G>T NCBI36
NG_008965.1:g.5247G>T
NG_008965.2:g.5258G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.4G>T MANE Select ENSP00000498282.1:p.Ala2Ser
ENST00000371265.4:c.4G>T ENSP00000360312.4:p.Ala2Ser
NM_057176.2:c.4G>T NP_476517.1:p.Ala2Ser
NM_057176.3:c.4G>T MANE Select NP_476517.1:p.Ala2Ser
Search 100 bp 5'
Search 100 bp 3'