Canonical Allele Identifier: CA385288210
Gene: SUOX HGNC NCBI

Linked Data

ClinVar Variation Id: 1018856
ClinVar RCV Id: RCV002254622
dbSNP Id: rs1303573231

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56004212G>A , CM000674.2:g.56004212G>A GRCh38
NC_000012.11:g.56397996G>A , CM000674.1:g.56397996G>A GRCh37
NC_000012.10:g.54684263G>A NCBI36
NG_008136.1:g.11954G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266971.8:c.823G>A MANE Select ENSP00000266971.3:p.Val275Ile
ENST00000266971.7:c.823G>A ENSP00000266971.3:p.Val275Ile
ENST00000356124.8:c.823G>A ENSP00000348440.4:p.Val275Ile
ENST00000394109.7:c.823G>A ENSP00000377668.3:p.Val275Ile
ENST00000394115.6:c.823G>A ENSP00000377674.2:p.Val275Ile
ENST00000548274.5:c.823G>A ENSP00000450245.1:p.Val275Ile
ENST00000550065.1:c.823G>A ENSP00000450264.1:p.Val275Ile
ENST00000551841.6:c.*11G>A ENSP00000449443.1:n.*11G>A
NM_000456.2:c.823G>A NP_000447.2:p.Val275Ile
NM_001032386.1:c.823G>A NP_001027558.1:p.Val275Ile
NM_001032387.1:c.823G>A NP_001027559.1:p.Val275Ile
XM_005269112.1:c.844G>A XP_005269169.1:p.Val282Ile
XM_017019905.2:c.844G>A XP_016875394.1:p.Val282Ile
XM_017019906.1:c.844G>A XP_016875395.1:p.Val282Ile
XM_017019907.2:c.823G>A XP_016875396.1:p.Val275Ile
XM_017019908.1:c.823G>A XP_016875397.1:p.Val275Ile
XM_024449167.1:c.844G>A XP_024304935.1:p.Val282Ile
NM_001032386.2:c.823G>A MANE Select NP_001027558.1:p.Val275Ile
NM_000456.3:c.823G>A NP_000447.2:p.Val275Ile
NM_001032387.2:c.823G>A NP_001027559.1:p.Val275Ile