Canonical Allele Identifier: CA163236
Gene: SOX11 HGNC NCBI

Linked Data

ClinVar Variation Id: 139530
ClinVar RCV Id: RCV000128429
dbSNP Id: rs587777480
MyVariant Identifiers: chr2:g.5833031T>C (hg19) chr2:g.5692899T>C (hg38)
PubMed: PMID:24886874
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692899T>C , CM000664.2:g.5692899T>C GRCh38
NC_000002.11:g.5833031T>C , CM000664.1:g.5833031T>C GRCh37
NC_000002.10:g.5750482T>C NCBI36
NG_050751.1:g.5233T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.178T>C MANE Select ENSP00000322568.3:p.Ser60Pro
ENST00000322002.4:c.178T>C ENSP00000322568.3:p.Ser60Pro
NM_003108.3:c.178T>C NP_003099.1:p.Ser60Pro
NM_003108.4:c.178T>C MANE Select NP_003099.1:p.Ser60Pro
Search 100 bp 5'
Search 100 bp 3'