Canonical Allele Identifier: CA417956504
Gene: BSND HGNC NCBI

Linked Data

dbSNP Id: rs1236430002
gnomAD v2: 1-55464877-C-G
gnomAD v4: 1-54999204-C-G
MyVariant Identifiers: chr1:g.55464877C>G (hg19) chr1:g.54999204C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999204C>G , CM000663.2:g.54999204C>G GRCh38
NC_000001.10:g.55464877C>G , CM000663.1:g.55464877C>G GRCh37
NC_000001.9:g.55237465C>G NCBI36
NG_008965.1:g.5261C>G
NG_008965.2:g.5272C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.18C>G MANE Select ENSP00000498282.1:p.Thr6=
ENST00000371265.4:c.18C>G ENSP00000360312.4:p.Thr6=
NM_057176.2:c.18C>G NP_476517.1:p.Thr6=
NM_057176.3:c.18C>G MANE Select NP_476517.1:p.Thr6=
Search 100 bp 5'
Search 100 bp 3'