Canonical Allele Identifier: CA340470476

Gene: BSND

Linked Data

• gnomAD v4: 1-54999203-C-G
• MyVariant Identifiers: chr1:g.55464876C>G (hg19) ; chr1:g.54999203C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54999203C>G , CM000663.2:g.54999203C>G	GRCh38
NC_000001.10:g.55464876C>G , CM000663.1:g.55464876C>G	GRCh37
NC_000001.9:g.55237464C>G	NCBI36
NG_008965.1:g.5260C>G
NG_008965.2:g.5271C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651561.1:c.17C>G MANE Select	ENSP00000498282.1:p.Thr6Ser
ENST00000371265.4:c.17C>G	ENSP00000360312.4:p.Thr6Ser
NM_057176.2:c.17C>G	NP_476517.1:p.Thr6Ser
NM_057176.3:c.17C>G MANE Select	NP_476517.1:p.Thr6Ser