Canonical Allele Identifier: CA322035204
Gene: S100B HGNC NCBI

Linked Data

dbSNP Id: rs909303086
gnomAD v2: 21-48019842-T-G
gnomAD v3: 21-46599929-T-G
gnomAD v4: 21-46599929-T-G
MyVariant Identifiers: chr21:g.48019842T>G (hg19) chr21:g.46599929T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46599929T>G , CM000683.2:g.46599929T>G GRCh38
NC_000021.8:g.48019842T>G , CM000683.1:g.48019842T>G GRCh37
NC_000021.7:g.46844270T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000291700.9:c.139-426A>C MANE Select ENSP00000291700.4:n.139-426A>C
ENST00000291700.8:c.139-426A>C ENSP00000291700.4:n.139-426A>C
ENST00000367071.4:c.232+353A>C ENSP00000356038.4:n.232+353A>C
ENST00000397648.1:c.139-426A>C ENSP00000380769.1:n.139-426A>C
NM_006272.2:c.139-426A>C NP_006263.1:n.139-426A>C
XM_017028424.2:c.139-426A>C XP_016883913.1:n.139-426A>C
NM_006272.3:c.139-426A>C MANE Select NP_006263.1:n.139-426A>C
Search 100 bp 5'
Search 100 bp 3'