Canonical Allele Identifier: CA417956545
Gene: BSND HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55464913G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999240G>A , CM000663.2:g.54999240G>A GRCh38
NC_000001.10:g.55464913G>A , CM000663.1:g.55464913G>A GRCh37
NC_000001.9:g.55237501G>A NCBI36
NG_008965.1:g.5297G>A
NG_008965.2:g.5308G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.54G>A MANE Select ENSP00000498282.1:p.Leu18=
ENST00000371265.4:c.54G>A ENSP00000360312.4:p.Leu18=
NM_057176.2:c.54G>A NP_476517.1:p.Leu18=
NM_057176.3:c.54G>A MANE Select NP_476517.1:p.Leu18=