Canonical Allele Identifier: CA340470614

Gene: BSND

Linked Data

• gnomAD v4: 1-54999239-T-C
• MyVariant Identifiers: chr1:g.55464912T>C (hg19) ; chr1:g.54999239T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54999239T>C , CM000663.2:g.54999239T>C	GRCh38
NC_000001.10:g.55464912T>C , CM000663.1:g.55464912T>C	GRCh37
NC_000001.9:g.55237500T>C	NCBI36
NG_008965.1:g.5296T>C
NG_008965.2:g.5307T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651561.1:c.53T>C MANE Select	ENSP00000498282.1:p.Leu18Pro
ENST00000371265.4:c.53T>C	ENSP00000360312.4:p.Leu18Pro
NM_057176.2:c.53T>C	NP_476517.1:p.Leu18Pro
NM_057176.3:c.53T>C MANE Select	NP_476517.1:p.Leu18Pro