Canonical Allele Identifier: CA385298383
Gene: SUOX HGNC NCBI

Linked Data

ClinVar Variation Id: 1474168
ClinVar RCV Id: RCV001971063
dbSNP Id: rs2136513491

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56004954T>C , CM000674.2:g.56004954T>C GRCh38
NC_000012.11:g.56398738T>C , CM000674.1:g.56398738T>C GRCh37
NC_000012.10:g.54685005T>C NCBI36
NG_008136.1:g.12696T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266971.8:c.1565T>C MANE Select ENSP00000266971.3:p.Val522Ala
ENST00000266971.7:c.1565T>C ENSP00000266971.3:p.Val522Ala
ENST00000356124.8:c.1565T>C ENSP00000348440.4:p.Val522Ala
ENST00000394109.7:c.1565T>C ENSP00000377668.3:p.Val522Ala
ENST00000394115.6:c.1565T>C ENSP00000377674.2:p.Val522Ala
ENST00000548274.5:c.1565T>C ENSP00000450245.1:p.Val522Ala
ENST00000550065.1:c.1565T>C ENSP00000450264.1:p.Val522Ala
NM_000456.2:c.1565T>C NP_000447.2:p.Val522Ala
NM_001032386.1:c.1565T>C NP_001027558.1:p.Val522Ala
NM_001032387.1:c.1565T>C NP_001027559.1:p.Val522Ala
XM_005269112.1:c.1586T>C XP_005269169.1:p.Val529Ala
XM_017019905.2:c.1586T>C XP_016875394.1:p.Val529Ala
XM_017019906.1:c.1586T>C XP_016875395.1:p.Val529Ala
XM_017019907.2:c.1565T>C XP_016875396.1:p.Val522Ala
XM_017019908.1:c.1565T>C XP_016875397.1:p.Val522Ala
XM_024449167.1:c.1586T>C XP_024304935.1:p.Val529Ala
NM_001032386.2:c.1565T>C MANE Select NP_001027558.1:p.Val522Ala
NM_000456.3:c.1565T>C NP_000447.2:p.Val522Ala
NM_001032387.2:c.1565T>C NP_001027559.1:p.Val522Ala