Canonical Allele Identifier: CA340470486
Gene: BSND HGNC NCBI

Linked Data

gnomAD v4: 1-54999205-T-C
MyVariant Identifiers: chr1:g.55464878T>C (hg19) chr1:g.54999205T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999205T>C , CM000663.2:g.54999205T>C GRCh38
NC_000001.10:g.55464878T>C , CM000663.1:g.55464878T>C GRCh37
NC_000001.9:g.55237466T>C NCBI36
NG_008965.1:g.5262T>C
NG_008965.2:g.5273T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.19T>C MANE Select ENSP00000498282.1:p.Phe7Leu
ENST00000371265.4:c.19T>C ENSP00000360312.4:p.Phe7Leu
NM_057176.2:c.19T>C NP_476517.1:p.Phe7Leu
NM_057176.3:c.19T>C MANE Select NP_476517.1:p.Phe7Leu
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