Canonical Allele Identifier: CA340470554
Gene: BSND HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55464892C>G (hg19) chr1:g.54999219C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999219C>G , CM000663.2:g.54999219C>G GRCh38
NC_000001.10:g.55464892C>G , CM000663.1:g.55464892C>G GRCh37
NC_000001.9:g.55237480C>G NCBI36
NG_008965.1:g.5276C>G
NG_008965.2:g.5287C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.33C>G MANE Select ENSP00000498282.1:p.Phe11Leu
ENST00000371265.4:c.33C>G ENSP00000360312.4:p.Phe11Leu
NM_057176.2:c.33C>G NP_476517.1:p.Phe11Leu
NM_057176.3:c.33C>G MANE Select NP_476517.1:p.Phe11Leu
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