Canonical Allele Identifier: CA480180148

Gene: SUOX

Linked Data

• ClinVar Variation Id: 1958065
• ClinVar RCV Id: RCV002725361
• dbSNP Id: rs1890690698
• gnomAD v3: 12-56004943-G-A
• gnomAD v4: 12-56004943-G-A
• MyVariant Identifiers: chr12:g.56398727G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004943G>A , CM000674.2:g.56004943G>A	GRCh38
NC_000012.11:g.56398727G>A , CM000674.1:g.56398727G>A	GRCh37
NC_000012.10:g.54684994G>A	NCBI36
NG_008136.1:g.12685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.1554G>A MANE Select	ENSP00000266971.3:p.Gln518=
ENST00000266971.7:c.1554G>A	ENSP00000266971.3:p.Gln518=
ENST00000356124.8:c.1554G>A	ENSP00000348440.4:p.Gln518=
ENST00000394109.7:c.1554G>A	ENSP00000377668.3:p.Gln518=
ENST00000394115.6:c.1554G>A	ENSP00000377674.2:p.Gln518=
ENST00000548274.5:c.1554G>A	ENSP00000450245.1:p.Gln518=
ENST00000550065.1:c.1554G>A	ENSP00000450264.1:p.Gln518=
NM_000456.2:c.1554G>A	NP_000447.2:p.Gln518=
NM_001032386.1:c.1554G>A	NP_001027558.1:p.Gln518=
NM_001032387.1:c.1554G>A	NP_001027559.1:p.Gln518=
XM_005269112.1:c.1575G>A	XP_005269169.1:p.Gln525=
XM_017019905.2:c.1575G>A	XP_016875394.1:p.Gln525=
XM_017019906.1:c.1575G>A	XP_016875395.1:p.Gln525=
XM_017019907.2:c.1554G>A	XP_016875396.1:p.Gln518=
XM_017019908.1:c.1554G>A	XP_016875397.1:p.Gln518=
XM_024449167.1:c.1575G>A	XP_024304935.1:p.Gln525=
NM_001032386.2:c.1554G>A MANE Select	NP_001027558.1:p.Gln518=
NM_000456.3:c.1554G>A	NP_000447.2:p.Gln518=
NM_001032387.2:c.1554G>A	NP_001027559.1:p.Gln518=