Canonical Allele Identifier: CA115165
Gene: STOX1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1720
ClinVar RCV Id: RCV000001790
dbSNP Id: rs10509305

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68885620A>C , CM000672.2:g.68885620A>C GRCh38
NC_000010.10:g.70645376A>C , CM000672.1:g.70645376A>C GRCh37
NC_000010.9:g.70315382A>C NCBI36
NG_012975.1:g.63083A>C

Transcript Alleles

HGVS Amino-acid change
NM_001130159.2:c.663+1161A>C VV NP_001123631.1:p.=
NM_001130160.2:c.463+3510A>C VV NP_001123632.1:p.=
NM_001130161.2:c.1824A>C VV NP_001123633.1:p.Glu608Asp
NM_152709.4:c.1824A>C VV NP_689922.3:p.Glu608Asp
XM_011539454.1:c.1494A>C XP_011537756.1:p.Glu498Asp
XM_011539454.2:c.1494A>C
ENST00000298596.10:c.1824A>C ENSP00000298596.6:p.Glu608Asp
ENST00000399162.2:n.463+3510A>C ENSP00000382115.2:p.=
ENST00000399165.8:n.663+1161A>C ENSP00000382118.4:p.=
ENST00000399169.8:c.1824A>C ENSP00000382121.4:p.Glu608Asp