Canonical Allele Identifier: CA340470626
Gene: BSND HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55464920C>A (hg19) chr1:g.54999247C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999247C>A , CM000663.2:g.54999247C>A GRCh38
NC_000001.10:g.55464920C>A , CM000663.1:g.55464920C>A GRCh37
NC_000001.9:g.55237508C>A NCBI36
NG_008965.1:g.5304C>A
NG_008965.2:g.5315C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.61C>A MANE Select ENSP00000498282.1:p.Leu21Ile
ENST00000371265.4:c.61C>A ENSP00000360312.4:p.Leu21Ile
NM_057176.2:c.61C>A NP_476517.1:p.Leu21Ile
NM_057176.3:c.61C>A MANE Select NP_476517.1:p.Leu21Ile
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