Canonical Allele Identifier: CA180451

Gene: SOX3

Linked Data

• ClinVar Variation Id: 167718
• ClinVar RCV Id: RCV000153990 ; RCV000454344 ; RCV000878811 ; RCV000720991
• dbSNP Id: rs200361128
• ExAC: X:139587069 C / G
• gnomAD v2: X-139587069-C-G
• gnomAD v3: X-140504904-C-G
• gnomAD v4: X-140504904-C-G
• COSMIC: COSM4989287
• MyVariant Identifiers: chrX:g.139587069C>G (hg19) ; chrX:g.140504904C>G (hg38)
• PubMed: PMID:26539891

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.140504904C>G , CM000685.2:g.140504904C>G	GRCh38
NC_000023.10:g.139587069C>G , CM000685.1:g.139587069C>G	GRCh37
NC_000023.9:g.139414735C>G	NCBI36
NG_009387.1:g.5157G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370536.5:c.157G>C MANE Select	ENSP00000359567.2:p.Val53Leu
ENST00000370536.3:c.157G>C	ENSP00000359567.2:p.Val53Leu
NM_005634.2:c.157G>C	NP_005625.2:p.Val53Leu
NM_005634.3:c.157G>C MANE Select	NP_005625.2:p.Val53Leu