Canonical Allele Identifier: CA2645834226
Gene: BSND HGNC NCBI

Linked Data

gnomAD v4: 1-54999114-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999114T>G , CM000663.2:g.54999114T>G GRCh38
NC_000001.10:g.55464787T>G , CM000663.1:g.55464787T>G GRCh37
NC_000001.9:g.55237375T>G NCBI36
NG_008965.1:g.5171T>G
NG_008965.2:g.5182T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.-73T>G MANE Select ENSP00000498282.1:n.-73T>G
ENST00000371265.4:c.-73T>G ENSP00000360312.4:n.-73T>G
NM_057176.2:c.-73T>G NP_476517.1:n.-73T>G
NM_057176.3:c.-73T>G MANE Select NP_476517.1:n.-73T>G
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