Canonical Allele Identifier: CA376881812

Gene: STOX1

Linked Data

• dbSNP Id: rs1345663387
• gnomAD v2: 10-70645335-G-A
• gnomAD v4: 10-68885579-G-A
• MyVariant Identifiers: chr10:g.70645335G>A (hg19) ; chr10:g.68885579G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68885579G>A , CM000672.2:g.68885579G>A	GRCh38
NC_000010.10:g.70645335G>A , CM000672.1:g.70645335G>A	GRCh37
NC_000010.9:g.70315341G>A	NCBI36
NG_012975.1:g.63042G>A
NG_012975.2:g.63043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298596.11:c.1783G>A MANE Select	ENSP00000298596.6:p.Gly595Ser
ENST00000642869.1:c.2119G>A	ENSP00000494558.1:p.Gly707Ser
ENST00000298596.10:c.1783G>A	ENSP00000298596.6:p.Gly595Ser
ENST00000399162.2:c.463+3469G>A	ENSP00000382115.2:n.463+3469G>A
ENST00000399165.8:c.663+1120G>A	ENSP00000382118.4:n.663+1120G>A
ENST00000399169.8:c.1783G>A	ENSP00000382121.4:p.Gly595Ser
NM_001130159.2:c.663+1120G>A	NP_001123631.1:n.663+1120G>A
NM_001130160.2:c.463+3469G>A	NP_001123632.1:n.463+3469G>A
NM_001130161.2:c.1783G>A	NP_001123633.1:p.Gly595Ser
NM_152709.4:c.1783G>A	NP_689922.3:p.Gly595Ser
XM_011539454.1:c.1453G>A	XP_011537756.1:p.Gly485Ser
XM_011539454.2:c.1453G>A	XP_011537756.1:p.Gly485Ser
NM_152709.5:c.1783G>A MANE Select	NP_689922.3:p.Gly595Ser
NM_001130161.3:c.1783G>A	NP_001123633.1:p.Gly595Ser
NM_001130159.3:c.663+1120G>A	NP_001123631.1:n.663+1120G>A
NM_001130160.3:c.463+3469G>A	NP_001123632.1:n.463+3469G>A
NM_001130161.4:c.1783G>A	NP_001123633.1:p.Gly595Ser