Canonical Allele Identifier: CA116814

Gene: BSND

Linked Data

• ClinVar Variation Id: 4389
• ClinVar RCV Id: RCV000004639 ; RCV001851648 ; RCV001375195 ; RCV002496257
• dbSNP Id: rs121908145
• ExAC: 1:55464869 G / T
• gnomAD v2: 1-55464869-G-T
• gnomAD v3: 1-54999196-G-T
• gnomAD v4: 1-54999196-G-T
• MyVariant Identifiers: chr1:g.55464869G>T (hg19) ; chr1:g.54999196G>T (hg38)
• PubMed: PMID:19646679

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54999196G>T , CM000663.2:g.54999196G>T	GRCh38
NC_000001.10:g.55464869G>T , CM000663.1:g.55464869G>T	GRCh37
NC_000001.9:g.55237457G>T	NCBI36
NG_008965.1:g.5253G>T
NG_008965.2:g.5264G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651561.1:c.10G>T MANE Select	ENSP00000498282.1:p.Glu4Ter
ENST00000371265.4:c.10G>T	ENSP00000360312.4:p.Glu4Ter
NM_057176.2:c.10G>T	NP_476517.1:p.Glu4Ter
NM_057176.3:c.10G>T MANE Select	NP_476517.1:p.Glu4Ter