Canonical Allele Identifier: CA340470409
Gene: BSND HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999188T>G , CM000663.2:g.54999188T>G GRCh38
NC_000001.10:g.55464861T>G , CM000663.1:g.55464861T>G GRCh37
NC_000001.9:g.55237449T>G NCBI36
NG_008965.1:g.5245T>G
NG_008965.2:g.5256T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.2T>G MANE Select ENSP00000498282.1:p.Met1Arg
ENST00000371265.4:c.2T>G ENSP00000360312.4:p.Met1Arg
NM_057176.2:c.2T>G NP_476517.1:p.Met1Arg
NM_057176.3:c.2T>G MANE Select NP_476517.1:p.Met1Arg