Canonical Allele Identifier: CA340470597
Gene: BSND HGNC NCBI

Linked Data

gnomAD v4: 1-54999230-G-A
MyVariant Identifiers: chr1:g.55464903G>A (hg19) chr1:g.54999230G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999230G>A , CM000663.2:g.54999230G>A GRCh38
NC_000001.10:g.55464903G>A , CM000663.1:g.55464903G>A GRCh37
NC_000001.9:g.55237491G>A NCBI36
NG_008965.1:g.5287G>A
NG_008965.2:g.5298G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.44G>A MANE Select ENSP00000498282.1:p.Gly15Glu
ENST00000371265.4:c.44G>A ENSP00000360312.4:p.Gly15Glu
NM_057176.2:c.44G>A NP_476517.1:p.Gly15Glu
NM_057176.3:c.44G>A MANE Select NP_476517.1:p.Gly15Glu
Search 100 bp 5'
Search 100 bp 3'