Canonical Allele Identifier: CA15987354
Gene: S100B HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.46602974A>G
GRCh37 chr21:g.48022887A>G
gnomAD v2:
21:48022887 A / G
gnomAD v3:
21:46602974 A / G
gnomAD v4:
chr21-46602974-A-G
Joint Max Group AF 0.3208731 (EAS)
Genomes Max Group AF 0.3208731 (EAS)
Exomes Max Group AF 0.08193172 (NFE)
dbSNP:
2839357
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46602974A>G , CM000683.2:g.46602974A>G GRCh38
NC_000021.8:g.48022887A>G , CM000683.1:g.48022887A>G GRCh37
NC_000021.7:g.46847315A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291700.9:c.-1-558T>C MANE Select ENSP00000291700.4:n.-1-558T>C
ENST00000291700.8:c.-1-558T>C ENSP00000291700.4:n.-1-558T>C
ENST00000367071.4:c.-1-558T>C ENSP00000356038.4:n.-1-558T>C
NM_006272.2:c.-1-558T>C NP_006263.1:n.-1-558T>C
XM_017028424.2:c.-8-551T>C XP_016883913.1:n.-8-551T>C
NM_006272.3:c.-1-558T>C MANE Select NP_006263.1:n.-1-558T>C
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