Canonical Allele Identifier: CA6621074
Gene: SUOX HGNC NCBI

Linked Data

ClinVar Variation Id: 309839
ClinVar RCV Id: RCV000357593
dbSNP Id: rs540792428

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56004372C>T , CM000674.2:g.56004372C>T GRCh38
NC_000012.11:g.56398156C>T , CM000674.1:g.56398156C>T GRCh37
NC_000012.10:g.54684423C>T NCBI36
NG_008136.1:g.12114C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266971.8:c.983C>T MANE Select ENSP00000266971.3:p.Thr328Ile
ENST00000266971.7:c.983C>T ENSP00000266971.3:p.Thr328Ile
ENST00000356124.8:c.983C>T ENSP00000348440.4:p.Thr328Ile
ENST00000394109.7:c.983C>T ENSP00000377668.3:p.Thr328Ile
ENST00000394115.6:c.983C>T ENSP00000377674.2:p.Thr328Ile
ENST00000548274.5:c.983C>T ENSP00000450245.1:p.Thr328Ile
ENST00000550065.1:c.983C>T ENSP00000450264.1:p.Thr328Ile
ENST00000551841.6:c.*171C>T ENSP00000449443.1:n.*171C>T
NM_000456.2:c.983C>T NP_000447.2:p.Thr328Ile
NM_001032386.1:c.983C>T NP_001027558.1:p.Thr328Ile
NM_001032387.1:c.983C>T NP_001027559.1:p.Thr328Ile
XM_005269112.1:c.1004C>T XP_005269169.1:p.Thr335Ile
XM_017019905.2:c.1004C>T XP_016875394.1:p.Thr335Ile
XM_017019906.1:c.1004C>T XP_016875395.1:p.Thr335Ile
XM_017019907.2:c.983C>T XP_016875396.1:p.Thr328Ile
XM_017019908.1:c.983C>T XP_016875397.1:p.Thr328Ile
XM_024449167.1:c.1004C>T XP_024304935.1:p.Thr335Ile
NM_001032386.2:c.983C>T MANE Select NP_001027558.1:p.Thr328Ile
NM_000456.3:c.983C>T NP_000447.2:p.Thr328Ile
NM_001032387.2:c.983C>T NP_001027559.1:p.Thr328Ile