Canonical Allele Identifier: CA340470621
Gene: BSND HGNC NCBI

Linked Data

dbSNP Id: rs1463448706
gnomAD v2: 1-55464917-G-T
gnomAD v4: 1-54999244-G-T
MyVariant Identifiers: chr1:g.55464917G>T (hg19) chr1:g.54999244G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999244G>T , CM000663.2:g.54999244G>T GRCh38
NC_000001.10:g.55464917G>T , CM000663.1:g.55464917G>T GRCh37
NC_000001.9:g.55237505G>T NCBI36
NG_008965.1:g.5301G>T
NG_008965.2:g.5312G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.58G>T MANE Select ENSP00000498282.1:p.Ala20Ser
ENST00000371265.4:c.58G>T ENSP00000360312.4:p.Ala20Ser
NM_057176.2:c.58G>T NP_476517.1:p.Ala20Ser
NM_057176.3:c.58G>T MANE Select NP_476517.1:p.Ala20Ser
Search 100 bp 5'
Search 100 bp 3'