Canonical Allele Identifier: CA871181
Gene: BSND HGNC NCBI

Linked Data

dbSNP Id: rs779777664
ExAC: 1:55464818 C / G
gnomAD v2: 1-55464818-C-G
gnomAD v4: 1-54999145-C-G
MyVariant Identifiers: chr1:g.55464818C>G (hg19) chr1:g.54999145C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999145C>G , CM000663.2:g.54999145C>G GRCh38
NC_000001.10:g.55464818C>G , CM000663.1:g.55464818C>G GRCh37
NC_000001.9:g.55237406C>G NCBI36
NG_008965.1:g.5202C>G
NG_008965.2:g.5213C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.-42C>G MANE Select ENSP00000498282.1:n.-42C>G
ENST00000371265.4:c.-42C>G ENSP00000360312.4:n.-42C>G
NM_057176.2:c.-42C>G NP_476517.1:n.-42C>G
NM_057176.3:c.-42C>G MANE Select NP_476517.1:n.-42C>G
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