Canonical Allele Identifier: CA871180
Gene: BSND HGNC NCBI

Linked Data

dbSNP Id: rs373288770
ExAC: 1:55464817 C / T
gnomAD v2: 1-55464817-C-T
gnomAD v3: 1-54999144-C-T
gnomAD v4: 1-54999144-C-T
MyVariant Identifiers: chr1:g.55464817C>T (hg19) chr1:g.54999144C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999144C>T , CM000663.2:g.54999144C>T GRCh38
NC_000001.10:g.55464817C>T , CM000663.1:g.55464817C>T GRCh37
NC_000001.9:g.55237405C>T NCBI36
NG_008965.1:g.5201C>T
NG_008965.2:g.5212C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.-43C>T MANE Select ENSP00000498282.1:n.-43C>T
ENST00000371265.4:c.-43C>T ENSP00000360312.4:n.-43C>T
NM_057176.2:c.-43C>T NP_476517.1:n.-43C>T
NM_057176.3:c.-43C>T MANE Select NP_476517.1:n.-43C>T
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