Canonical Allele Identifier: CA203849

Gene: SUOX

Linked Data

• ClinVar Variation Id: 202185
• ClinVar RCV Id: RCV000184031
• dbSNP Id: rs794729211
• MyVariant Identifiers: chr12:g.56397505T>A (hg19) ; chr12:g.56003721T>A (hg38)
• PubMed: PMID:9428520 ; PMID:12112661

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56003721T>A , CM000674.2:g.56003721T>A	GRCh38
NC_000012.11:g.56397505T>A , CM000674.1:g.56397505T>A	GRCh37
NC_000012.10:g.54683772T>A	NCBI36
NG_008136.1:g.11463T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.332T>A MANE Select	ENSP00000266971.3:p.Val111Asp
ENST00000266971.7:c.332T>A	ENSP00000266971.3:p.Val111Asp
ENST00000356124.8:c.332T>A	ENSP00000348440.4:p.Val111Asp
ENST00000394109.7:c.332T>A	ENSP00000377668.3:p.Val111Asp
ENST00000394115.6:c.332T>A	ENSP00000377674.2:p.Val111Asp
ENST00000546712.1:n.823T>A
ENST00000546833.5:c.332T>A	ENSP00000449872.1:p.Val111Asp
ENST00000548274.5:c.332T>A	ENSP00000450245.1:p.Val111Asp
ENST00000550065.1:c.332T>A	ENSP00000450264.1:p.Val111Asp
ENST00000550340.5:n.217T>A
ENST00000550478.5:n.411T>A
ENST00000551698.5:n.354T>A
ENST00000551841.6:c.267+65T>A	ENSP00000449443.1:n.267+65T>A
ENST00000552258.5:c.332T>A	ENSP00000450049.1:p.Val111Asp
ENST00000552363.5:n.185T>A
NM_000456.2:c.332T>A	NP_000447.2:p.Val111Asp
NM_001032386.1:c.332T>A	NP_001027558.1:p.Val111Asp
NM_001032387.1:c.332T>A	NP_001027559.1:p.Val111Asp
XM_005269112.1:c.353T>A	XP_005269169.1:p.Val118Asp
XM_017019905.2:c.353T>A	XP_016875394.1:p.Val118Asp
XM_017019906.1:c.353T>A	XP_016875395.1:p.Val118Asp
XM_017019907.2:c.332T>A	XP_016875396.1:p.Val111Asp
XM_017019908.1:c.332T>A	XP_016875397.1:p.Val111Asp
XM_024449167.1:c.353T>A	XP_024304935.1:p.Val118Asp
NM_001032386.2:c.332T>A MANE Select	NP_001027558.1:p.Val111Asp
NM_000456.3:c.332T>A	NP_000447.2:p.Val111Asp
NM_001032387.2:c.332T>A	NP_001027559.1:p.Val111Asp