Canonical Allele Identifier: CA138610

Gene: BSND

Linked Data

• ClinVar Variation Id: 46553
• ClinVar RCV Id: RCV000039823 ; RCV000576696 ; RCV001522253 ; RCV001273329
• dbSNP Id: rs33938617
• ExAC: 1:55474262 G / A
• gnomAD v2: 1-55474262-G-A
• gnomAD v3: 1-55008589-G-A
• gnomAD v4: 1-55008589-G-A
• MyVariant Identifiers: chr1:g.55474262G>A (hg19) ; chr1:g.55008589G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55008589G>A , CM000663.2:g.55008589G>A	GRCh38
NC_000001.10:g.55474262G>A , CM000663.1:g.55474262G>A	GRCh37
NC_000001.9:g.55246850G>A	NCBI36
NG_008965.1:g.14646G>A
NG_008965.2:g.14657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651561.1:c.924G>A MANE Select	ENSP00000498282.1:p.Pro308=
ENST00000371265.4:c.924G>A	ENSP00000360312.4:p.Pro308=
NM_057176.2:c.924G>A	NP_476517.1:p.Pro308=
XM_006710883.2:c.693G>A	XP_006710946.1:p.Pro231=
NM_057176.3:c.924G>A MANE Select	NP_476517.1:p.Pro308=