Canonical Allele Identifier: CA180451
Gene: SOX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 167718
ClinVar RCV Id: RCV000153990 RCV000454344 RCV000720991 RCV000878811
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
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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
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