Canonical Allele Identifier: CA340470644
Gene: BSND HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55464930T>G (hg19) chr1:g.54999257T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999257T>G , CM000663.2:g.54999257T>G GRCh38
NC_000001.10:g.55464930T>G , CM000663.1:g.55464930T>G GRCh37
NC_000001.9:g.55237518T>G NCBI36
NG_008965.1:g.5314T>G
NG_008965.2:g.5325T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.71T>G MANE Select ENSP00000498282.1:p.Phe24Cys
ENST00000371265.4:c.71T>G ENSP00000360312.4:p.Phe24Cys
NM_057176.2:c.71T>G NP_476517.1:p.Phe24Cys
NM_057176.3:c.71T>G MANE Select NP_476517.1:p.Phe24Cys
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