Canonical Allele Identifier: CA6621125

Gene: SUOX

Linked Data

• ClinVar Variation Id: 1428768
• ClinVar RCV Id: RCV001936473
• dbSNP Id: rs779639807
• ExAC: 12:56398362 C / T
• gnomAD v2: 12-56398362-C-T
• gnomAD v4: 12-56004578-C-T
• MyVariant Identifiers: chr12:g.56398362C>T (hg19) ; chr12:g.56004578C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004578C>T , CM000674.2:g.56004578C>T	GRCh38
NC_000012.11:g.56398362C>T , CM000674.1:g.56398362C>T	GRCh37
NC_000012.10:g.54684629C>T	NCBI36
NG_008136.1:g.12320C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000266971.8:c.1189C>T MANE Select	ENSP00000266971.3:p.Arg397Trp
ENST00000266971.7:c.1189C>T	ENSP00000266971.3:p.Arg397Trp
ENST00000356124.8:c.1189C>T	ENSP00000348440.4:p.Arg397Trp
ENST00000394109.7:c.1189C>T	ENSP00000377668.3:p.Arg397Trp
ENST00000394115.6:c.1189C>T	ENSP00000377674.2:p.Arg397Trp
ENST00000548274.5:c.1189C>T	ENSP00000450245.1:p.Arg397Trp
ENST00000550065.1:c.1189C>T	ENSP00000450264.1:p.Arg397Trp
ENST00000551841.6:c.*377C>T	ENSP00000449443.1:n.*377C>T
NM_000456.2:c.1189C>T	NP_000447.2:p.Arg397Trp
NM_001032386.1:c.1189C>T	NP_001027558.1:p.Arg397Trp
NM_001032387.1:c.1189C>T	NP_001027559.1:p.Arg397Trp
XM_005269112.1:c.1210C>T	XP_005269169.1:p.Arg404Trp
XM_017019905.2:c.1210C>T	XP_016875394.1:p.Arg404Trp
XM_017019906.1:c.1210C>T	XP_016875395.1:p.Arg404Trp
XM_017019907.2:c.1189C>T	XP_016875396.1:p.Arg397Trp
XM_017019908.1:c.1189C>T	XP_016875397.1:p.Arg397Trp
XM_024449167.1:c.1210C>T	XP_024304935.1:p.Arg404Trp
NM_001032386.2:c.1189C>T MANE Select	NP_001027558.1:p.Arg397Trp
NM_000456.3:c.1189C>T	NP_000447.2:p.Arg397Trp
NM_001032387.2:c.1189C>T	NP_001027559.1:p.Arg397Trp